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.Phe1039Leu	CA387536751 ENST00000382292.9:c.3117C>G CA387536752 ENST00000382292.9:c.3117C>A CA387536757 ENST00000382292.9:c.3115T>C