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Canonical Allele Identifier: Get Identifier
Gene: HNF1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000439721.2:p.[Asp192_Lys198delinsGluSerTyrGlnProArgArg;Arg200_Trp206delinsGlyGlyThrValSerSer;Pro208del;Ser210del;Gln212_Thr213delinsHisPro;Ser214_Pro215insArgHis;Gly216_Gln222delinsGlnAlaSerThrSerSerPro]
CA2499221468
ENST00000543427.5:c.576del