{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741853523",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 705,
          "referenceAllele": "R",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009962",
      "geneNCBI_id": 5976,
      "geneSymbol": "UPF1",
      "hgvs": [
        "NP_001284478.1:p.Arg705Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA306278230",
          "hgvs": "NM_001297549.2:c.2113C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165084"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2735629[alleleid]",
        "alleleId": 2735629,
        "preferredName": "NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2570673",
        "RCV": [
          "RCV003311601"
        ],
        "variationId": 2570673
      }
    ]
  },
  "type": "amino-acid"
}