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Canonical Allele Identifier: Get Identifier
Gene: HGD HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000283871.5:p.[Gln29_Cys35delinsArgIleIleLeuArgSerAla;Tyr37_Leu44delinsThrIleSerMetLeuSerSer;Gly46_Lys57delinsGlnAspArgLeuSerLeuValHisGlyAlaProIle;Arg58_Ser59insGlu]
CA2582342886
ENST00000283871.9:c.85del