Allele Registry

Canonical Allele Identifier: PA2826576446

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000560347

RCV001508705

RCV001783032

ClinVar Variation:

458260

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Tyr720His	CA6911660 NM_001278055.2:c.2158T>C