{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826088294",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 186,
          "referenceAllele": "L",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_001166926.1:p.Leu186Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412393934",
          "hgvs": "NM_001173455.2:c.557T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156050"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481438[alleleid]",
        "alleleId": 481438,
        "preferredName": "NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488570",
        "RCV": [
          "RCV000578439"
        ],
        "variationId": 488570
      }
    ]
  },
  "type": "amino-acid"
}