Allele Registry

Canonical Allele Identifier: PA2826576011

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000289676

RCV002520873

ClinVar Variation:

311570

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Asp168Gly	CA6912001 NM_001278055.2:c.503A>G