Allele Registry

Canonical Allele Identifier: PA2826577650

Gene: SACS HGNC NCBI

ClinVar Allele:

384411

ClinVar RCV:

RCV000449537

ClinVar Variation:

397520

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Gly2517Val	CA16609396 NM_001278055.2:c.7550G>T