{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825241665",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NP_000700.1:p.Gly249Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA406012858",
          "hgvs": "NM_000709.4:c.745G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147222"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1459061[alleleid]",
        "alleleId": 1459061,
        "preferredName": "NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1511580",
        "RCV": [
          "RCV002043368"
        ],
        "variationId": 1511580
      }
    ]
  },
  "type": "amino-acid"
}