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.Phe743Leu	CA387540550 ENST00000382292.9:c.2229T>G CA387540551 ENST00000382292.9:c.2229T>A CA387540556 ENST00000382292.9:c.2227T>C