Allele Registry

Canonical Allele Identifier: PA2826576055

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000293298

RCV000992772

RCV001500911

ClinVar Variation:

311567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Lys214Glu	CA6911975 NM_001278055.2:c.640A>G