ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580146968
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2040380
ClinVar RCV Id:
RCV002886394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2244Gln
CA068612
NM_001042723.2:c.6731G>A