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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000371729.3:p.[Leu426_Phe440delinsPheTyrGlnAlaGluMetMetLysGlnLysGluGlnArgLeuIle;Gly442delinsGlnGlu;Ala444His;Cys446delinsValSer;Pro449_Glu455delinsTyrHisLeuValArgLys]
CA16041652
ENST00000382292.9:c.1276_1277dup