Allele Registry

Canonical Allele Identifier: PA645437195

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000289676

RCV002520873

ClinVar Variation:

311570

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asp315Gly	CA6912001 NM_014363.6:c.944A>G