{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829720829",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 504,
          "referenceAllele": "Q",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024219",
      "geneNCBI_id": 10849,
      "geneSymbol": "POLR1G",
      "hgvs": [
        "NP_036231.1:p.Gln504Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9515189",
          "hgvs": "NM_012099.3:c.1510C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172841"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227807[alleleid]",
        "alleleId": 227807,
        "preferredName": "NM_012099.3(POLR1G):c.1510C>A (p.Gln504Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225987",
        "RCV": [
          "RCV001675675"
        ],
        "variationId": 225987
      }
    ]
  },
  "type": "amino-acid"
}