Allele Registry

Canonical Allele Identifier: PA2826577282

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000992794

ClinVar Variation:

805300

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Leu1998Phe	CA387521851 NM_001278055.2:c.5994G>T CA387521852 NM_001278055.2:c.5994G>C