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
ENSP00000385844.1:p.Ser1001Arg	CA387526206 ENST00000402364.1:c.3003T>A CA387526207 ENST00000402364.1:c.3003T>G CA387526220 ENST00000402364.1:c.3001A>C