Canonical Allele Identifier: PA2573075221
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235922
ClinVar RCV Id: RCV000224995 RCV000622922 RCV001200032 RCV001092121 RCV001542744
ClinVar Variation Id: 235923
ClinVar RCV Id: RCV000224996 RCV001531555
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365381.1:p.Gly2554Arg
CA2232931
NM_001378452.1:c.7660G>A
CA10581498
NM_001378452.1:c.7660G>C