Allele Registry

Canonical Allele Identifier: PA351290

Gene: SACS HGNC NCBI

ClinVar Allele:

213625

ClinVar RCV:

RCV001843500

RCV001848018

RCV002305471

ClinVar Variation:

242492

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg3875His	CA351289 NM_014363.6:c.11624G>A