{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645437890",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 53,
          "referenceAllele": "Q",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NP_000700.1:p.Gln53His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9461012",
          "hgvs": "NM_000709.4:c.159G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406004638",
          "hgvs": "NM_000709.4:c.159G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147222"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=333637[alleleid]",
        "alleleId": 333637,
        "preferredName": "NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/329359",
        "RCV": [
          "RCV000363085",
          "RCV001833460"
        ],
        "variationId": 329359
      }
    ]
  },
  "type": "amino-acid"
}