ClinGen Allele Registry
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Canonical Allele Identifier:
PA132998
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036787
RCV001547355
RCV002496575
RCV002513438
RCV003996300
ClinVar Variation:
43823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.His240Arg
CA010616
NM_001035.3:c.719A>G