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
ENSP00000507855.1:p.Arg189Ser	CA387551948 ENST00000684385.1:c.567A>T CA387551949 ENST00000684385.1:c.567A>C