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
ENSP00000371735.3:p.Ser2434Arg	CA387519598 ENST00000382298.7:c.7302T>G CA387519599 ENST00000382298.7:c.7302T>A CA387519602 ENST00000382298.7:c.7300A>C