ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828761675
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453136
ClinVar RCV Id:
RCV000519089
RCV000624199
RCV000677367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365381.1:p.Glu246Lys
CA351636431
NM_001378452.1:c.736G>A