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_011533341.1:p.Leu390Phe	CA387549925 XM_011535039.2:c.1170G>T CA387549927 XM_011535039.2:c.1170G>C