Canonical Allele Identifier: PA2829365377
Gene: ITPR1 HGNC NCBI
ClinVar RCV:
RCV000032772
ClinVar Variation:
39572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Asn587Asp
CA261185
NM_002222.7:c.1759A>G