ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826053104
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265201
ClinVar RCV Id:
RCV000254736
RCV000623132
RCV000677359
RCV000850563
RCV000995787
RCV002278250
RCV003335291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Arg269Trp
CA10588363
NM_001168272.2:c.805C>T