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
ENSP00000507223.1:p.Lys406Asn	CA387549737 ENST00000683680.1:c.1218G>C CA387549738 ENST00000683680.1:c.1218G>T