Allele Registry

Canonical Allele Identifier: PA2826578871

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000516513

RCV001412104

RCV001783015

ClinVar Variation:

448191

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Ile4200Val	CA6910031 NM_001278055.2:c.12598A>G