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
ENSP00000507057.1:p.Asn583Lys	CA387546805 ENST00000684497.1:c.1749T>G CA387546811 ENST00000684497.1:c.1749T>A