Canonical Allele Identifier: PA2829366280
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349146
ClinVar RCV Id: RCV002046798

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Asp2194Glu
CA351640807
NM_002222.7:c.6582C>A
CA351640809
NM_002222.7:c.6582C>G