Allele Registry

Canonical Allele Identifier: PA658664479

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000522663

RCV000674847

RCV001224412

RCV003323587

ClinVar Variation:

450379

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ser208Ile	CA246678645 NM_014363.6:c.623G>T