ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829365652
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345726
ClinVar RCV Id:
RCV000363994
RCV000415780
RCV000677357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Met1129Val
CA2231667
NM_002222.7:c.3385A>G