Allele Registry

Canonical Allele Identifier: PA2826992440

Gene: INPP5E HGNC NCBI

ClinVar RCV:

RCV000194920

RCV001044083

RCV001166425

RCV002517084

RCV004528981

ClinVar Variation:

211185

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305431.1:p.Arg292His	CA209401 NM_001318502.2:c.875G>A