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.Asn2642Lys	CA387512796 ENST00000402364.1:c.7926C>G CA387512797 ENST00000402364.1:c.7926C>A