Allele Registry

Canonical Allele Identifier: PA094513

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV003466323

ClinVar Variation:

2678513

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.His1587Arg	CA387527790 NM_014363.6:c.4760A>G