ClinGen Allele Registry
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Canonical Allele Identifier:
PA261186
Gene: ITPR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000032772
ClinVar Variation:
39572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Asn587Asp
CA261185
NM_001168272.2:c.1759A>G