{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828448648",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "referenceAllele": "R",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001357681.1:p.Arg59Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA082670",
          "hgvs": "NM_001370752.1:c.[175C>T;1015+286A>C]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA278016",
          "hgvs": "NM_001370752.1:c.175C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708153"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16944[alleleid]",
        "alleleId": 16944,
        "preferredName": "NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1905",
        "RCV": [
          "RCV000001982",
          "RCV001815158"
        ],
        "variationId": 1905
      }
    ]
  },
  "type": "amino-acid"
}