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.Asp1783Glu	CA387525847 ENST00000683270.1:c.5349T>G CA387525848 ENST00000683270.1:c.5349T>A