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Canonical Allele Identifier: Get Identifier
Gene: VDR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351014.1:p.[Gln407delinsProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer;Leu429_Gln431delinsProCysSerMetLysLeuThrGlyGlnProValAlaValProGlyTrpGlyCysSerSerArgAlaThrCysGlnAlaArgGlyTrpArgLeuLeuSerSerProProHisProValTrpGlySerAlaProProLeuProProProLeuSerThrGlnProIleLeuSerProValGlnProAsnProPheProAlaGlyPheSerProValProTer;Pro432_Val433insLeu;Ala434delinsLeuGluValProGlyTrpGlyCysSerSerArgAlaThrCysGlnAlaArgGlyTrpArgLeuLeuSerSerProProHisProValTrpGlySerAlaProProLeuProProProLeuSerThrGlnProIleLeuSerProValGlnProAsnProPheProAlaGlyPheSerProValProTer;Val435_Pro436insPheGlyAsnGluIleSerTerAla;Pro494_Ter495insAspLeuSerHisGluGluLeuLeuPheVal]