ClinGen Allele Registry
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Canonical Allele Identifier:
PA306864
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182737
RCV001189921
RCV001193371
RCV002516883
ClinVar Variation:
201260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg1941Ser
CA010038
NM_001035.3:c.5821C>A