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
XP_011533341.1:p.Asn2972Lys	CA387515626 XM_011535039.2:c.8916C>G CA387515627 XM_011535039.2:c.8916C>A