{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826669432",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 792,
          "referenceAllele": "R",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020454",
      "geneNCBI_id": 84172,
      "geneSymbol": "POLR1B",
      "hgvs": [
        "NP_001269705.1:p.Arg792Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA348277171",
          "hgvs": "NM_001282776.2:c.2374C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162713"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=920614[alleleid]",
        "alleleId": 920614,
        "preferredName": "NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/932313",
        "RCV": [
          "RCV001200058",
          "RCV003319222"
        ],
        "variationId": 932313
      }
    ]
  },
  "type": "amino-acid"
}