Canonical Allele Identifier: PA2580274138
Gene: ITPR1 HGNC NCBI
ClinVar RCV:
RCV002601859
ClinVar Variation:
1918233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Asp45Asn
CA351794478
NM_002222.7:c.133G>A