Canonical Allele Identifier: PA645418058
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265201
ClinVar RCV Id: RCV000254736 RCV000623132 RCV000677359 RCV000850563 RCV000995787 RCV002278250 RCV003335291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Arg269Trp
CA10588363
NM_002222.7:c.805C>T