{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580157950",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "W",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_001166925.1:p.Trp252Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412394391",
          "hgvs": "NM_001173454.2:c.754T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1861047[alleleid]",
        "alleleId": 1861047,
        "preferredName": "NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1804022",
        "RCV": [
          "RCV002468760"
        ],
        "variationId": 1804022
      }
    ]
  },
  "type": "amino-acid"
}