Canonical Allele Identifier: PA2826053231
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423129
ClinVar RCV Id: RCV000485001 RCV001265802
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161744.1:p.Leu590Phe
CA16617972
NM_001168272.2:c.1768C>T