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
ENSP00000390925.2:p.Glu573Asp	CA387547022 ENST00000423156.2:c.1719G>T CA387547023 ENST00000423156.2:c.1719G>C