ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829365908
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39571
ClinVar RCV Id:
RCV000032771
RCV000624908
RCV001091682
RCV003389037
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Val1538Met
CA261182
NM_002222.7:c.4612G>A