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.Thr4444Ser	CA387505601 XM_011535038.1:c.13331C>G CA387505605 XM_011535038.1:c.13330A>T