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_011533340.1:p.Phe3650Leu	CA387511172 XM_011535038.1:c.10950C>G CA387511173 XM_011535038.1:c.10950C>A CA387511178 XM_011535038.1:c.10948T>C