ClinGen Allele Registry
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Canonical Allele Identifier:
PA306880
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182757
RCV000217048
RCV002362937
RCV002517795
ClinVar Variation:
201276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala2387Thr
CA010573
NM_001035.3:c.7159G>A