{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826088355",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 236,
          "referenceAllele": "M",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_001166926.1:p.Met236Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412394540",
          "hgvs": "NM_001173455.2:c.708G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412394541",
          "hgvs": "NM_001173455.2:c.708G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412394542",
          "hgvs": "NM_001173455.2:c.708G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156050"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849880[alleleid]",
        "alleleId": 849880,
        "preferredName": "NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/860913",
        "RCV": [
          "RCV001067311"
        ],
        "variationId": 860913
      }
    ]
  },
  "type": "amino-acid"
}