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Canonical Allele Identifier: Get Identifier
Gene: JUP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Ala745_Ter746insGlnAlaAlaTrpProGlnTyrGlyProLeuPheAlaGlyPheSerSerSerLeuGluProProSerValGlyGlyProProIleSerProLeuLysProAlaLeuLeuPheTrpGlyAspProLeuLeuLeuSerPheProLysHisGlyValProTrpProAlaPhePheLeuCysLeuTrpTrpGlyTrpGlyGlyLeuPheLeuLeuAlaProSerGlyGlyGlyGlyGlnValThrArgSerGlyLeuSerPheTrpGlyCysArgSerThrGluProLeuThrProValCysProArgSerProAsnArgCysGlySerSerSerGluArgLeuSerValGlnAlaMetGlyGlnAspArgLysValProGluLeuGlyLysProGlyCysAsnPheLeuLeuHisProAlaProProGluValLeuArgArgValPheLeuGlyIleValPheCysSerCysPheSerValLeuGlyMetGlyProGlyProAspThrProSerProProLeuTrpProTrpProLeuLysLeuGlnThrGlnValProIleLeuPheSerProSerAsnAlaProProAsnLeuGlnProProCysLeuGlnLeuProGlyProGlyArgAlaLeuValProSerLeuGlyLeuIlePheSerLeuAsnSerThrAspGlnLeuPro
CA399490187
NM_002230.4:c.2236T>C