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.Ser3715Arg	CA387510637 ENST00000382292.9:c.11145C>G CA387510638 ENST00000382292.9:c.11145C>A CA387510643 ENST00000382292.9:c.11143A>C