{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826990768",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 482,
          "referenceAllele": "R",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001983",
      "geneNCBI_id": 84916,
      "geneSymbol": "UTP4",
      "hgvs": [
        "NP_001305320.1:p.Arg482Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116052",
          "hgvs": "NM_001318391.2:c.1444C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS651892"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18233[alleleid]",
        "alleleId": 18233,
        "preferredName": "NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3194",
        "RCV": [
          "RCV000003345",
          "RCV001851610"
        ],
        "variationId": 3194
      }
    ]
  },
  "type": "amino-acid"
}