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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000385844.1:p.[Tyr3427_Val3432delinsThrArgGluAsnMetLeu;Tyr3434Thr;Val3436_Tyr3447delinsLeuMetLeuLysValValIleSerMetAspHisThrSer;Pro3449His;Tyr3451_Ile3456delinsHisMetGlnLeuLeu]
CA645591579
ENST00000402364.1:c.10279del