Allele Registry

Canonical Allele Identifier: PA645437582

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000341299

RCV000676358

RCV001083821

RCV001847977

RCV002222460

RCV003929987

ClinVar Variation:

240902

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Phe2780Cys	CA6910780 NM_014363.6:c.8339T>G