{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826088323",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 213,
          "referenceAllele": "E",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_001166926.1:p.Glu213Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412394279",
          "hgvs": "NM_001173455.2:c.637G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156050"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2752007[alleleid]",
        "alleleId": 2752007,
        "preferredName": "NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2584444",
        "RCV": [
          "RCV003335884"
        ],
        "variationId": 2584444
      }
    ]
  },
  "type": "amino-acid"
}