{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916068111",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NP_775907.4:p.Gly494Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA272756",
          "hgvs": "NM_173636.5:c.1480G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405437360",
          "hgvs": "NM_173636.5:c.1480G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183479"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169490[alleleid]",
        "alleleId": 169490,
        "preferredName": "NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160249",
        "RCV": [
          "RCV000147915",
          "RCV000622916",
          "RCV001507436",
          "RCV002274918"
        ],
        "variationId": 160249
      }
    ]
  },
  "type": "amino-acid"
}