Canonical Allele Identifier: PA2825503939
Gene: ITPR1 HGNC NCBI
ClinVar RCV:
RCV002663199
ClinVar Variation:
1944548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001093422.2:p.Ala19Thr
CA351793915
NM_001099952.4:c.55G>A