Canonical Allele Identifier: PA2826053860
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705544
ClinVar RCV Id: RCV002283858

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161744.1:p.Glu2225Asp
CA68827995
NM_001168272.2:c.6675G>C
CA351640652
NM_001168272.2:c.6675G>T