Allele Registry

Canonical Allele Identifier: PA2826578346

Gene: SACS HGNC NCBI

ClinVar Allele:

47015

ClinVar RCV:

RCV000032007

RCV001244900

ClinVar Variation:

38457

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Arg3489Gln	CA343112 NM_001278055.2:c.10466G>A