{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828527940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 534,
          "referenceAllele": "R",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NP_001361450.1:p.Arg534Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3969848",
          "hgvs": "NM_001374521.1:c.1600C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708514"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1190421[alleleid]",
        "alleleId": 1190421,
        "preferredName": "NM_013352.4(DSE):c.2635C>T (p.Arg879Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1200367",
        "RCV": [
          "RCV001565370",
          "RCV002276795",
          "RCV001865998"
        ],
        "variationId": 1200367
      }
    ]
  },
  "type": "amino-acid"
}