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"NP_778243.1:p.Arg42_Gln342delinsGlnGlnValGlnLeuLysAlaGluCysAsnLysGlyTyrValLysValLysGlnValGlyValAsnProThrSerIleAspSerValValIleGlyLysAspGlnGluValLysLeuGlnProGlyGlnValLeuHisMetValAsnGluLeuTyrProTyrIleValGluPheGluGluGluAlaLysAsnProGlyLeuGluThrHisArgLysArgLysArgSerGlyAsnSerAspSerIleGluArgAspAlaAlaGlnGluAlaGluAlaGlyThrGlyLeuGluProGlySerAsnSerGlyGlnCysSerValProLeuLysLysGlyLysAspAlaProIleLysLysGluSerLeuGlyHisTrpSerGlnGlyLeuLysIleSerMetGlnAspProLysMetGlnValTyrLysAspGluGlnValValValIleLysAspLysTyrProLysAlaArgTyrHisTrpLeuValLeuProTrpThrSerIleSerSerLeuLysAlaValAlaArgGluHisLeuGluLeuLeuLysHisMetHisThrValGlyGluLysValIleValAspPheAlaGlySerSerLysLeuArgPheArgLeuGlyTyrHisAlaIleProSerMetSerHisValHisLeuHisValIleSerGlnAspPheAspSerProCysLeuLysAsnLysLysHisTrpAsnSerPheAsnThrGluTyrPheLeuGluSerGlnAlaValIleGluMetValGlnGluAlaGlyArgValThrValArgAspGlyMetProGluLeuLeuLysLeuProLeuArgCysHisGluCysGlnGlnLeuLeuProSerIleProGlnLeuLysGluHisLeuArgLysHisTrpThrGlnTer" }, "referenceSequence": 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], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "NR_036579.1:n.372C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS049801" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_006716791.2:c.124C>T" ], "proteinEffect": { "hgvs": "XP_006716854.1:p.Arg42Ter", "hgvsWellDefined": 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"XP_016870320.1:p.Arg56_Val423delinsGlnGlnValGlnLeuLysAlaGluCysAsnLysGlyTyrValLysValLysGlnValGlyValAsnProThrSerIleAspSerValValIleGlyLysAspGlnGluValLysLeuGlnProGlyGlnValLeuHisMetValAsnGluLeuTyrProTyrIleValGluPheGluGluGluAlaLysAsnProGlyLeuGluThrHisArgLysArgLysArgSerGlyAsnSerAspSerIleGluArgAspAlaAlaGlnGluAlaGluAlaGlyThrGlyLeuGluProGlySerAsnSerGlyGlnCysSerValProLeuLysLysGlyLysAspAlaProIleLysLysGluSerLeuGlyHisTrpSerGlnGlyLeuLysIleSerMetGlnAspProLysMetGlnValTyrLysAspGluGlnValValValIleLysAspLysTyrProLysAlaArgTyrHisTrpLeuValLeuProTrpThrSerIleSerSerLeuLysAlaValAlaArgGluHisLeuGluLeuLeuLysHisMetHisThrValGlyGluLysValIleValAspPheAlaGlySerSerLysLeuArgPheArgLeuGlyTyrHisAlaIleProSerMetSerSerIleArgValPheCysGlyProProGluThrGlyIleLeuGlnGlyGlnIleSerArgProAsnLeuLeuGluSerGluAsnAspThrArgGluGlyLeuGluMetAlaTrpIleGlnArgProProValSerAlaValSerAlaSerProSerThrCysProIleTrpCysLeuLeuGlnThrThrLeuMetProMetLeuSerGlyProGluSerSerProProGlyPheHisGluValGlyGluAsnAspValGlyValLeuLeuLysLeuTyrIleHisGluAlaTrpLeuGlnLeuHisGlySerValLeuLysIleProIleAspProGlyValProArgAlaThrMetHisLysLeuGluArgIleSerTrpLysGlyTrpAsnValProTrpLeuSerAspProLeuPheTyrCysTyrSerArgTrpCysTrpSerThrGlnValTer" 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"XP_016870321.1:p.Arg56_Ala369delinsGlnGlnValGlnLeuLysAlaGluCysAsnLysGlyTyrValLysValLysGlnValGlyValAsnProThrSerIleAspSerValValIleGlyLysAspGlnGluValLysLeuGlnProGlyGlnValLeuHisMetValAsnGluLeuTyrProTyrIleValGluPheGluGluGluAlaLysAsnProGlyLeuGluThrHisArgLysArgLysArgSerGlyAsnSerAspSerIleGluArgAspAlaAlaGlnGluAlaGluAlaGlyThrGlyLeuGluProGlySerAsnSerGlyGlnCysSerValProLeuLysLysGlyLysAspAlaProIleLysLysGluSerLeuGlyHisTrpSerGlnGlyLeuLysIleSerMetGlnAspProLysMetGlnValTyrLysAspGluGlnValValValIleLysAspLysTyrProLysAlaArgTyrHisTrpLeuValLeuProTrpThrSerIleSerSerLeuLysAlaValAlaArgGluHisLeuGluLeuLeuLysHisMetHisThrValGlyGluLysValIleValAspPheAlaGlySerSerLysLeuArgPheArgLeuGlyTyrHisAlaIleProSerMetSerSerIleArgValPheCysGlyProProGluThrGlyIleLeuGlnGlyGlnIleSerArgProAsnLeuLeuGluSerGluAsnAspThrArgGluGlyLeuGluMetAlaTrpIleGlnArgProProValSerAlaValSerAlaSerProSerThrCysProIleTrpCysLeuLeuGlnThrThrLeuMetProMetLeuSerGlyProGluSerSerProProAlaAlaThrSerTrpIleCysAlaGluAspThrHisArgSerTrpGlySerGlnSerAsnAsnAlaTer" }, 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"http://reg.genome.network/refseq/RS581156" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN015984", "geneNCBI_id": 54840, "geneSymbol": "APTX", "hgvs": [ "XM_024447576.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_024303344.1:p.Arg42Ter", "hgvsWellDefined": 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