ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825504274
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2684235
ClinVar RCV Id:
RCV003482731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Leu605Ile
CA351643070
NM_001099952.4:c.1813C>A