{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828105464",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1470,
          "referenceAllele": "R",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NP_001350640.1:p.Arg1470Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7537516",
          "hgvs": "NM_001363711.2:c.4408C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873611[alleleid]",
        "alleleId": 873611,
        "preferredName": "NM_001363711.2(DUOX2):c.4408C>T (p.Arg1470Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/884964",
        "RCV": [
          "RCV001116293",
          "RCV002556460"
        ],
        "variationId": 884964
      }
    ]
  },
  "type": "amino-acid"
}