{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA115517",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NP_001158255.1:p.Gly249Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115515",
          "hgvs": "NM_001164783.2:c.745G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17419[alleleid]",
        "alleleId": 17419,
        "preferredName": "NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2380",
        "RCV": [
          "RCV001064270",
          "RCV001818118"
        ],
        "variationId": 2380
      }
    ]
  },
  "type": "amino-acid"
}