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.Ser566Arg	CA387547144 ENST00000423156.2:c.1698C>G CA387547146 ENST00000423156.2:c.1698C>A CA387547162 ENST00000423156.2:c.1696A>C