Canonical Allele Identifier: PA2573075153
Gene: ITPR1 HGNC NCBI
ClinVar RCV:
RCV000032772
ClinVar Variation:
39572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365381.1:p.Asn602Asp
CA261185
NM_001378452.1:c.1804A>G