Allele Registry

Canonical Allele Identifier: PA658664686

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000517432

RCV000676353

RCV001834668

RCV002527516

ClinVar Variation:

448184

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Thr3373Ile	CA6910502 NM_014363.6:c.10118C>T