This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000385844.1:p.[Leu2957_Glu2959delinsPheGlnArg;Ala2961_Pro2963del;Ser2965_Gly2975delinsHis;Gln2977_Met2986del]
CA2622328907
ENST00000402364.1:c.8868del