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.Ser4238Arg	CA387507075 ENST00000382292.9:c.12714C>G CA387507076 ENST00000382292.9:c.12714C>A CA387507080 ENST00000382292.9:c.12712A>C