{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121790",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 183,
          "referenceAllele": "R",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NP_898871.1:p.Arg183Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121789",
          "hgvs": "NM_183050.3:c.548G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184738"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26976[alleleid]",
        "alleleId": 26976,
        "preferredName": "NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11937",
        "RCV": [
          "RCV000056008",
          "RCV000082754",
          "RCV000589206",
          "RCV002512989"
        ],
        "variationId": 11937
      }
    ]
  },
  "type": "amino-acid"
}