Allele Registry

Canonical Allele Identifier: PA2826577053

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV001912874

ClinVar Variation:

1401464

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Cys1676Phe	CA246659103 NM_001278055.2:c.5027G>T