Allele Registry

Canonical Allele Identifier: PA658654130

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000513129

RCV001275193

RCV002527402

ClinVar Variation:

444312

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Thr1911Met	CA6911204 NM_014363.6:c.5732C>T