{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829100735",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 2644,
          "referenceAllele": "T",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001373095.1:p.Thr2644Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA329740",
          "hgvs": "NM_001386166.1:c.7931C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78498[alleleid]",
        "alleleId": 78498,
        "preferredName": "NM_001148.6(ANK2):c.11531C>A (p.Thr3844Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67602",
        "RCV": [
          "RCV000058349"
        ],
        "variationId": 67602
      }
    ]
  },
  "type": "amino-acid"
}