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
ENSP00000385844.1:p.Asp2046Glu	CA387516744 ENST00000402364.1:c.6138C>G CA387516745 ENST00000402364.1:c.6138C>A