Allele Registry

Canonical Allele Identifier: PA261183

Gene: ITPR1 HGNC NCBI

ClinVar RCV:

RCV000032771

RCV000624908

RCV001091682

RCV003389037

ClinVar Variation:

39571

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161744.1:p.Val1547Met	CA261182 NM_001168272.2:c.4639G>A