{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499282956",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 267,
          "referenceAllele": "R",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013815",
      "geneNCBI_id": 53630,
      "geneSymbol": "BCO1",
      "hgvs": [
        "NP_059125.2:p.Arg267Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8190882",
          "hgvs": "NM_017429.3:c.801A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA396872795",
          "hgvs": "NM_017429.3:c.801A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175458"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1283028[alleleid]",
        "alleleId": 1283028,
        "preferredName": "NM_017429.3(BCO1):c.801A>T (p.Arg267Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1293223",
        "RCV": [
          "RCV001717438"
        ],
        "variationId": 1293223
      }
    ]
  },
  "type": "amino-acid"
}