ClinGen Allele Registry
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Canonical Allele Identifier:
PA915972963
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345737
ClinVar RCV Id:
RCV000387446
RCV000884285
RCV000516241
RCV002488752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Ile1421Val
CA2231949
NM_001099952.4:c.4261A>G