{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829107650",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1504,
          "referenceAllele": "V",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001373116.1:p.Val1504Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145025",
          "hgvs": "NM_001386187.2:c.4511T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736047"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78495[alleleid]",
        "alleleId": 78495,
        "preferredName": "NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67599",
        "RCV": [
          "RCV000589585",
          "RCV000620213",
          "RCV000852980",
          "RCV001150178",
          "RCV001085479",
          "RCV001841765",
          "RCV001256867",
          "RCV003974947"
        ],
        "variationId": 67599
      }
    ]
  },
  "type": "amino-acid"
}