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.Ser2530Arg	CA387518696 ENST00000382292.9:c.7590C>G CA387518697 ENST00000382292.9:c.7590C>A CA387518702 ENST00000382292.9:c.7588A>C