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_005266395.1:p.Ser1393Arg	CA387532278 XM_005266338.2:c.4179C>G CA387532279 XM_005266338.2:c.4179C>A CA387532291 XM_005266338.2:c.4177A>C