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        "hgvsWellDefined": "XP_005250354.1:p.Trp395_Thr600delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
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    },
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          "start": 1361
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      ],
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      },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565781"
    },
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      ],
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        "hgvsWellDefined": "XP_016867581.1:p.Trp205_Thr410delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565782"
    },
    {
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      ],
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        "hgvsWellDefined": "XP_016867582.1:p.Trp171_Thr376delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565783"
    },
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      "gene": "http://reg.genome.network/gene/GN004696",
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      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744658.2:n.1230G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593381"
    },
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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      "referenceSequence": "http://reg.genome.network/refseq/RS593382"
    },
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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        "XR_001744660.2:n.1190G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS593383"
    },
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS593384"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS608548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA339852",
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      "hgvs": [
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        "hgvsWellDefined": "NP_000172.2:p.Trp446_Thr651delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000304895.9:c.1338G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.1338G>A"
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        "protein": {
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          "RefSeq": {
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687756",
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          "start": 929
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001271219.1:p.Trp300_Thr505delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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        "hgvsWellDefined": "NP_001280033.1:p.Trp256_Thr461delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822537",
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        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001280034.1:p.Trp227_Thr432delinsSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}