Allele Registry

Canonical Allele Identifier: PA2826578219

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV001238280

RCV001834064

ClinVar Variation:

964123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Tyr3316His	CA387512326 NM_001278055.2:c.9946T>C