Canonical Allele Identifier: PA2573075265
Gene: ITPR1 HGNC NCBI
ClinVar RCV:
RCV000015924
ClinVar Variation:
14801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365381.1:p.Pro1083Leu
CA341334
NM_001378452.1:c.3248C>T