ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829366448
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224119
ClinVar RCV Id:
RCV000209834
RCV001310467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Gly2532Glu
CA353411
NM_002222.7:c.7595G>A