ClinGen Allele Registry
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Canonical Allele Identifier:
PA184741
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000156389
RCV001804869
RCV002515017
RCV003998312
ClinVar Variation:
179595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg2359Gln
CA010522
NM_001035.3:c.7076G>A