Allele Registry

Canonical Allele Identifier: PA2826578269

Gene: SACS HGNC NCBI

ClinVar Allele:

335683

ClinVar RCV:

RCV000304456

RCV001504069

ClinVar Variation:

311511

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Ile3379Val	CA6910428 NM_001278055.2:c.10135A>G