Allele Registry

Canonical Allele Identifier: PA094452

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000032007

RCV001244900

ClinVar Variation:

38457

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg3636Gln	CA343112 NM_014363.6:c.10907G>A