{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827814919",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "S",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001341189.1:p.Ser1659Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA329735",
          "hgvs": "NM_001354260.2:c.4976G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625472"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78497[alleleid]",
        "alleleId": 78497,
        "preferredName": "NM_001148.6(ANK2):c.11516G>C (p.Ser3839Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67601",
        "RCV": [
          "RCV000058348",
          "RCV001572006",
          "RCV001854214",
          "RCV002504967",
          "RCV004019026"
        ],
        "variationId": 67601
      }
    ]
  },
  "type": "amino-acid"
}