{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645486753",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1478,
          "referenceAllele": "R",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NP_054799.4:p.Arg1478Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7537512",
          "hgvs": "NM_014080.5:c.4432C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322592[alleleid]",
        "alleleId": 322592,
        "preferredName": "NM_001363711.2(DUOX2):c.4432C>T (p.Arg1478Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316136",
        "RCV": [
          "RCV000360980",
          "RCV002520961"
        ],
        "variationId": 316136
      }
    ]
  },
  "type": "amino-acid"
}