ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825505503
Gene: ITPR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000209834
RCV001310467
ClinVar Variation:
224119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Gly2547Glu
CA353411
NM_001099952.4:c.7640G>A