Canonical Allele Identifier: PA2828761616
Gene: ITPR1 HGNC NCBI
ClinVar RCV:
RCV002601859
ClinVar Variation:
1918233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365381.1:p.Asp45Asn
CA351794478
NM_001378452.1:c.133G>A