{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA224239",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NP_000047.1:p.Cys349Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA224238",
          "hgvs": "NM_000056.5:c.1046G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102457[alleleid]",
        "alleleId": 102457,
        "preferredName": "NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96564",
        "RCV": [
          "RCV000173927",
          "RCV000790712",
          "RCV001831887"
        ],
        "variationId": 96564
      }
    ]
  },
  "type": "amino-acid"
}