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"NP_001341655.1:p.Cys477_Leu747delinsArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720554" }, { "@id": "http://reg.genome.network/allele/PA2827928363", "coordinates": [ { 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"NP_001341658.1:p.Cys664_Leu934delinsArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720555" }, { "@id": "http://reg.genome.network/allele/PA2827928877", "coordinates": [ { "allele": "A", "end": 1797, "referenceAllele": "T", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.2:c.1764T>A" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Cys588Ter", "hgvsWellDefined": "NP_001341659.1:p.Cys588_Leu858delinsArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720556" } ], "type": "nucleotide" }