ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826053029
Gene: ITPR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
359436
ClinVar RCV:
RCV000414716
RCV000624443
ClinVar Variation:
372854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Arg36His
CA16042451
NM_001168272.2:c.107G>A