Canonical Allele Identifier: PA1139744743
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520945
ClinVar RCV Id: RCV000622722 RCV000764511 RCV000992210 RCV001542743
ClinVar Variation Id: 985871
ClinVar RCV Id: RCV001267000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365381.1:p.Gly2550Arg
CA351649065
NM_001378452.1:c.7648G>A
CA351649066
NM_001378452.1:c.7648G>C