Allele Registry

Canonical Allele Identifier: PA2826578278

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000517352

RCV001829472

RCV002525070

ClinVar Variation:

448185

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Tyr3394Cys	CA6910422 NM_001278055.2:c.10181A>G