{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA325045",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 387,
          "referenceAllele": "K",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_000275.1:p.Lys387Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325044",
          "hgvs": "NM_000284.4:c.1159A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146830"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212020[alleleid]",
        "alleleId": 212020,
        "preferredName": "NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214937",
        "RCV": [
          "RCV000200467",
          "RCV001079335",
          "RCV002363013"
        ],
        "variationId": 214937
      }
    ]
  },
  "type": "amino-acid"
}