ClinGen Allele Registry
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Canonical Allele Identifier:
PA658681647
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000541396
RCV001177351
RCV002350256
RCV002528371
ClinVar Variation:
463609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg1919Gln
CA086956
NM_001035.3:c.5756G>A