Allele Registry

Canonical Allele Identifier: PA2573075223

Gene: ITPR1 HGNC NCBI

ClinVar RCV:

RCV000209834

RCV001310467

ClinVar Variation:

224119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365381.1:p.Gly2595Glu	CA353411 NM_001378452.1:c.7784G>A