{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827814852",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1564,
          "referenceAllele": "T",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001341189.1:p.Thr1564Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145030",
          "hgvs": "NM_001354260.2:c.4691C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625472"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33096[alleleid]",
        "alleleId": 33096,
        "preferredName": "NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18057",
        "RCV": [
          "RCV000019674",
          "RCV000223796",
          "RCV000204635",
          "RCV000618056",
          "RCV000723633",
          "RCV001841248"
        ],
        "variationId": 18057
      }
    ]
  },
  "type": "amino-acid"
}