Allele Registry

Canonical Allele Identifier: PA2829366426

Gene: ITPR1 HGNC NCBI

ClinVar RCV:

RCV000622722

RCV000764511

RCV000992210

RCV001267000

RCV001542743

ClinVar Variation:

520945

985871

HGVS (amino-acid)	Matching Registered Transcripts
NP_002213.5:p.Gly2487Arg	CA351649065 NM_002222.7:c.7459G>A CA351649066 NM_002222.7:c.7459G>C