{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826972893",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1018,
          "referenceAllele": "R",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "NP_001304853.1:p.Arg1018Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA151412",
          "hgvs": "NM_001317924.2:c.3053G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640066"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132656[alleleid]",
        "alleleId": 132656,
        "preferredName": "NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127158",
        "RCV": [
          "RCV000115014",
          "RCV000433622",
          "RCV000754960",
          "RCV000653250",
          "RCV000850617",
          "RCV001262101",
          "RCV003224149",
          "RCV003224150"
        ],
        "variationId": 127158
      }
    ]
  },
  "type": "amino-acid"
}