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"XP_006711600.1:p.Arg91_Leu347delinsLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538021" }, { "@id": "http://reg.genome.network/allele/PA1139751863", "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.5:c.271C>T" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Arg91Ter", "hgvsWellDefined": "NP_078805.3:p.Arg91_Phe531delinsLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698706", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.271C>T" }, "RefSeq": { "hgvs": "NM_024529.5:c.271C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Arg91Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Arg91Ter" } } } } ], "type": "nucleotide" }