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.Leu1043Phe	CA387536767 XM_011535039.2:c.3129A>T CA387536768 XM_011535039.2:c.3129A>C