Allele Registry

Canonical Allele Identifier: PA2826576103

Gene: SACS HGNC NCBI

ClinVar Allele:

319296

ClinVar RCV:

RCV000372498

RCV001060561

ClinVar Variation:

311563

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Leu279Phe	CA6911935 NM_001278055.2:c.837A>T CA387549328 NM_001278055.2:c.837A>C