{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828104495",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NP_001350640.1:p.Gly200Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7538895",
          "hgvs": "NM_001363711.2:c.598G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA270133699",
          "hgvs": "NM_001363711.2:c.597_598delinsCA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392278970",
          "hgvs": "NM_001363711.2:c.598G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873649[alleleid]",
        "alleleId": 873649,
        "preferredName": "NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1166129[alleleid]",
        "alleleId": 1166129,
        "preferredName": "NM_001363711.2(DUOX2):c.598G>C (p.Gly200Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/888352",
        "RCV": [
          "RCV001121591",
          "RCV001270330",
          "RCV001700700",
          "RCV002249732"
        ],
        "variationId": 888352
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1175865",
        "RCV": [
          "RCV001531205"
        ],
        "variationId": 1175865
      }
    ]
  },
  "type": "amino-acid"
}