Allele Registry

Canonical Allele Identifier: PA645437266

Gene: SACS HGNC NCBI

ClinVar Allele:

334084

ClinVar RCV:

RCV000379945

RCV000501904

RCV002520869

ClinVar Variation:

311546

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ala1290Ser	CA6911463 NM_014363.6:c.3868G>T