{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827023272",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 279,
          "referenceAllele": "R",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NP_001305805.1:p.Arg279Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259909",
          "hgvs": "NM_001318876.2:c.836G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648098"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39768[alleleid]",
        "alleleId": 39768,
        "preferredName": "NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30811",
        "RCV": [
          "RCV000023796",
          "RCV000513700",
          "RCV000788034",
          "RCV002504821",
          "RCV002281718",
          "RCV002513205"
        ],
        "variationId": 30811
      }
    ]
  },
  "type": "amino-acid"
}