{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828104664",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NP_001350640.1:p.Gly488Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7538602",
          "hgvs": "NM_001363711.2:c.1462G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392276580",
          "hgvs": "NM_001363711.2:c.1462G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573150886",
          "hgvs": "NM_001363711.2:c.1461_1462delinsCA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2740097288",
          "hgvs": "NM_001363711.2:c.1461_1462delinsCC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227368[alleleid]",
        "alleleId": 227368,
        "preferredName": "NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1375153[alleleid]",
        "alleleId": 1375153,
        "preferredName": "NM_001363711.2(DUOX2):c.1461_1462delinsCA (p.Gly488Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3147357[alleleid]",
        "alleleId": 3147357,
        "preferredName": "NM_001363711.2(DUOX2):c.1461_1462inv (p.Gly488Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225342",
        "RCV": [
          "RCV000490324",
          "RCV000614180",
          "RCV000755103",
          "RCV001582720",
          "RCV002515593",
          "RCV003417764"
        ],
        "variationId": 225342
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1415646",
        "RCV": [
          "RCV001933186"
        ],
        "variationId": 1415646
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2989628",
        "RCV": [
          "RCV003842259"
        ],
        "variationId": 2989628
      }
    ]
  },
  "type": "amino-acid"
}