Allele Registry

Canonical Allele Identifier: PA094611

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000194652

RCV000230214

RCV000513770

RCV001815246

RCV001847873

ClinVar Variation:

212115

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Pro2798Gln	CA277355 NM_014363.6:c.8393C>A