ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962545
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133186
ClinVar RCV Id:
RCV000119686
RCV001802867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro2366Arg
CA024705
NM_001042723.2:c.7097C>G