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          "allele": "T",
          "end": 2226,
          "referenceAllele": "C",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.2:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:p.Gln580Ter",
        "hgvsWellDefined": "NP_001341655.1:p.Gln580_Leu747delinsLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928424",
      "coordinates": [
        {
          "allele": "T",
          "end": 2332,
          "referenceAllele": "C",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.2:c.2299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:p.Gln767Ter",
        "hgvsWellDefined": "NP_001341658.1:p.Gln767_Leu934delinsLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928938",
      "coordinates": [
        {
          "allele": "T",
          "end": 2104,
          "referenceAllele": "C",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.2:c.2071C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:p.Gln691Ter",
        "hgvsWellDefined": "NP_001341659.1:p.Gln691_Leu858delinsLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720556"
    }
  ],
  "type": "nucleotide"
}