ClinGen Allele Registry
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Canonical Allele Identifier:
PA915972879
Gene: ITPR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000377614
RCV000677361
RCV001598658
RCV002523265
ClinVar Variation:
345716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Ala911Val
CA2231486
NM_001099952.4:c.2732C>T