{
  "resourceType": "StructureDefinition",
  "id": "observation-geneticsAminoAcidChangeName",
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "oo"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    }
  ],
  "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeName",
  "name": "AminoAcidChangeName",
  "status": "draft",
  "date": "2016-03-14",
  "publisher": "Health Level Seven International (Clinical Genomics)",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "description": "Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide ([SO:0001237](http://www.sequenceontology.org/browser/current_svn/term/SO:0001237)). LOINC Code: ([48005-3](http://loinc.org/48005-3)).",
  "fhirVersion": "3.0.1",
  "mapping": [
    {
      "identity": "v2",
      "uri": "http://hl7.org/v2",
      "name": "HL7 v2 Mapping"
    },
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM Mapping"
    }
  ],
  "kind": "complex-type",
  "abstract": false,
  "contextType": "resource",
  "context": [
    "Observation"
  ],
  "type": "Extension",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation": "constraint",
  "differential": {
    "element": [
      {
        "id": "Extension",
        "path": "Extension",
        "short": "HGVS nomenclature for observed Amino Acid Change",
        "definition": "Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide ([SO:0001237](http://www.sequenceontology.org/browser/current_svn/term/SO:0001237)). LOINC Code: ([48005-3](http://loinc.org/48005-3)).",
        "min": 0,
        "max": "1",
        "mapping": [
          {
            "identity": "v2",
            "map": "N/A"
          },
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension.extension",
        "path": "Extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.url",
        "path": "Extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeName"
      },
      {
        "id": "Extension.valueCodeableConcept",
        "path": "Extension.valueCodeableConcept",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "binding": {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
              "valueString": "ClinVar-variant-database"
            }
          ],
          "strength": "preferred",
          "description": "NCBI central repository of potentially clinically relevant variants",
          "valueSetUri": "http://www.ncbi.nlm.nih.gov/clinvar/variation"
        }
      }
    ]
  }
}