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      "proteinEffect": {
        "hgvs": "NP_004619.3:p.Glu740Ter",
        "hgvsWellDefined": "NP_004619.3:p.Glu740_Leu940delinsTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.2218G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.2218G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:p.Glu740Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:p.Glu740Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "G",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.2:n.2090G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "G",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.2:n.1966G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827927324",
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "G",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.2:c.1639G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:p.Glu547Ter",
        "hgvsWellDefined": "NP_001341655.1:p.Glu547_Leu747delinsTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928406",
      "coordinates": [
        {
          "allele": "T",
          "end": 2233,
          "referenceAllele": "G",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.2:c.2200G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:p.Glu734Ter",
        "hgvsWellDefined": "NP_001341658.1:p.Glu734_Leu934delinsTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827928920",
      "coordinates": [
        {
          "allele": "T",
          "end": 2005,
          "referenceAllele": "G",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.2:c.1972G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:p.Glu658Ter",
        "hgvsWellDefined": "NP_001341659.1:p.Glu658_Leu858delinsTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720556"
    }
  ],
  "type": "nucleotide"
}