ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825505059
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
253023
ClinVar RCV Id:
RCV000491057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Leu1787Pro
CA351639406
NM_001099952.4:c.5360T>C