Allele Registry

Canonical Allele Identifier: PA645437713

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000413289

RCV001274915

RCV002523949

ClinVar Variation:

373337

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ser4513Asn	CA6909946 NM_014363.6:c.13538G>A