Allele Registry

Canonical Allele Identifier: PA2826577320

Gene: SACS HGNC NCBI

ClinVar Allele:

462927

ClinVar RCV:

RCV000532956

RCV001834758

RCV004023781

ClinVar Variation:

458271

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Ile2051Thr	CA6911056 NM_001278055.2:c.6152T>C