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.Thr1839Ser	CA387525607 XM_011535038.1:c.5516C>G CA387525609 XM_011535038.1:c.5515A>T