Canonical Allele Identifier: PA2826053851
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1700399
ClinVar RCV Id: RCV002274648

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161744.1:p.Met2198Ile
CA351640470
NM_001168272.2:c.6594G>A
CA351640471
NM_001168272.2:c.6594G>C
CA351640472
NM_001168272.2:c.6594G>T