{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580157960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_001166925.1:p.Gly294Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412394725",
          "hgvs": "NM_001173454.2:c.880G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412394726",
          "hgvs": "NM_001173454.2:c.880G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2473211[alleleid]",
        "alleleId": 2473211,
        "preferredName": "NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2498132",
        "RCV": [
          "RCV003219193"
        ],
        "variationId": 2498132
      }
    ]
  },
  "type": "amino-acid"
}