{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107530",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72,
          "referenceAllele": "R",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NP_000275.1:p.Arg72Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320653",
          "hgvs": "NM_000284.4:c.214C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146830"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212004[alleleid]",
        "alleleId": 212004,
        "preferredName": "NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214938",
        "RCV": [
          "RCV000505722",
          "RCV000624128",
          "RCV000692713",
          "RCV001814100",
          "RCV001796727"
        ],
        "variationId": 214938
      }
    ]
  },
  "type": "amino-acid"
}