{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829099949",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "V",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001373095.1:p.Val1508Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204259",
          "hgvs": "NM_001386166.1:c.4523T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=204096[alleleid]",
        "alleleId": 204096,
        "preferredName": "NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207944",
        "RCV": [
          "RCV000190221"
        ],
        "variationId": 207944
      }
    ]
  },
  "type": "amino-acid"
}