Allele Registry

Canonical Allele Identifier: PA2826992383

Gene: INPP5E HGNC NCBI

ClinVar Allele:

458921

ClinVar RCV:

RCV000839869

RCV001088844

RCV001335948

RCV002527750

RCV003151089

RCV004541674

ClinVar Variation:

461748

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305431.1:p.Thr208Ile	CA5337119 NM_001318502.2:c.623C>T