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
ENSP00000507223.1:p.Ile200Leu	CA387551876 ENST00000683680.1:c.598A>T CA387551877 ENST00000683680.1:c.598A>C