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
ENSP00000371729.3:p.Leu572Phe	CA387547045 ENST00000382292.9:c.1716G>C CA387547049 ENST00000382292.9:c.1716G>T