{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829080245",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1752,
          "referenceAllele": "V",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001373076.1:p.Val1752Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145035",
          "hgvs": "NM_001386147.1:c.5254G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735906"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78499[alleleid]",
        "alleleId": 78499,
        "preferredName": "NM_001148.6(ANK2):c.11683G>A (p.Val3895Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67603",
        "RCV": [
          "RCV000987468",
          "RCV000862015",
          "RCV001841766",
          "RCV001703968",
          "RCV002326780",
          "RCV003944979"
        ],
        "variationId": 67603
      }
    ]
  },
  "type": "amino-acid"
}