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
ENSP00000507855.1:p.Val394Leu	CA387549919 ENST00000684385.1:c.1180G>T CA387549923 ENST00000684385.1:c.1180G>C