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.Arg571Ser	CA387547067 ENST00000423156.2:c.1713G>T CA387547069 ENST00000423156.2:c.1713G>C