{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827829979",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1721,
          "referenceAllele": "R",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001341202.1:p.Arg1721Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127768",
          "hgvs": "NM_001354273.2:c.5161C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625588"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33098[alleleid]",
        "alleleId": 33098,
        "preferredName": "NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18059",
        "RCV": [
          "RCV000019676",
          "RCV000234999",
          "RCV000211890",
          "RCV000474063",
          "RCV000620379",
          "RCV001145853",
          "RCV001082560",
          "RCV000852983",
          "RCV001841250",
          "RCV003904850"
        ],
        "variationId": 18059
      }
    ]
  },
  "type": "amino-acid"
}