{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915988918",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 124,
          "referenceAllele": "R",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NP_001158255.1:p.Arg124Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221198",
          "hgvs": "NM_001164783.2:c.370C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99263[alleleid]",
        "alleleId": 99263,
        "preferredName": "NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93356",
        "RCV": [
          "RCV000177087",
          "RCV001854398"
        ],
        "variationId": 93356
      }
    ]
  },
  "type": "amino-acid"
}