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
ENSP00000507173.1:p.Trp3252del
CA387513786
ENST00000682944.1:c.9756G>A
CA387513789
ENST00000682944.1:c.9755G>A