{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915988939",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 220,
          "referenceAllele": "A",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NP_001158255.1:p.Ala220Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221207",
          "hgvs": "NM_001164783.2:c.659C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99274[alleleid]",
        "alleleId": 99274,
        "preferredName": "NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93367",
        "RCV": [
          "RCV000179335",
          "RCV000790736",
          "RCV001831820"
        ],
        "variationId": 93367
      }
    ]
  },
  "type": "amino-acid"
}