Canonical Allele Identifier: PA2826053866
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349146
ClinVar RCV Id: RCV002046798

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161744.1:p.Asp2242Glu
CA351640807
NM_001168272.2:c.6726C>A
CA351640809
NM_001168272.2:c.6726C>G