{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645419753",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 332,
          "referenceAllele": "P",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NP_898871.1:p.Pro332Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365009178",
          "hgvs": "NM_183050.3:c.995C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184738"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425715[alleleid]",
        "alleleId": 425715,
        "preferredName": "NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432059",
        "RCV": [
          "RCV000498242",
          "RCV000530607",
          "RCV003419842"
        ],
        "variationId": 432059
      }
    ]
  },
  "type": "amino-acid"
}