{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645501780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1139,
          "referenceAllele": "Q",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "NP_079408.3:p.Gln1139Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2892368",
          "hgvs": "NM_025132.4:c.3416A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178741"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298431[alleleid]",
        "alleleId": 298431,
        "preferredName": "NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/348751",
        "RCV": [
          "RCV000276391",
          "RCV000354756",
          "RCV000945504",
          "RCV002502342",
          "RCV001727700",
          "RCV001700078",
          "RCV002244834",
          "RCV002244833"
        ],
        "variationId": 348751
      }
    ]
  },
  "type": "amino-acid"
}