Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
XP_016876028.1:p.Asp1052Glu	CA387536641 XM_017020539.1:c.3156C>G CA387536642 XM_017020539.1:c.3156C>A