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
ENSP00000507173.1:p.Thr4573Ser	CA387504689 ENST00000682944.1:c.13718C>G CA387504691 ENST00000682944.1:c.13717A>T