Allele Registry

Canonical Allele Identifier: PA2826576098

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000596432

RCV002532604

RCV002532605

ClinVar Variation:

501595

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Ile272Val	CA6911942 NM_001278055.2:c.814A>G