{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826004319",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 437,
          "referenceAllele": "Y",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NP_001158255.1:p.Tyr437His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA406015686",
          "hgvs": "NM_001164783.2:c.1309T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1336212[alleleid]",
        "alleleId": 1336212,
        "preferredName": "NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1344509",
        "RCV": [
          "RCV001848605"
        ],
        "variationId": 1344509
      }
    ]
  },
  "type": "amino-acid"
}