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Canonical Allele Identifier: Get Identifier
Gene: HNF1B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000478682.1:p.[Leu48_Ser52delinsValProTrpGlnArg;Gly53_Ala54insArg;Glu55_Lys59delinsArgHisGlnAlaGlyLeu;Val61_Phe62delinsTyrSer;Thr64_Gly72delinsGlnArgProArgGlnGlyProLeuVal;Leu74_Asp77delinsArgArg]
CA2573332395
ENST00000617272.4:c.142_143del