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.Ile1591Leu	CA387527835 XM_011535039.2:c.4771A>C CA387527837 XM_011535039.2:c.4771A>T