Allele Registry

Canonical Allele Identifier: PA2826577283

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000538763

RCV001829567

ClinVar Variation:

458269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Ile1999Val	CA387521847 NM_001278055.2:c.5995A>G