ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962655
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93291
ClinVar RCV Id:
RCV000079169
RCV001802768
RCV003997201
RCV002514390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2591Gly
CA024847
NM_001042723.2:c.7771C>G