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.Phe3188Leu	CA6910604 ENST00000382292.9:c.9562T>C CA387514161 ENST00000382292.9:c.9564T>G CA387514162 ENST00000382292.9:c.9564T>A