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
ENSP00000507624.1:p.Thr504Ser	CA387548007 ENST00000683270.1:c.1511C>G CA387548013 ENST00000683270.1:c.1510A>T