ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961699
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133106
ClinVar RCV Id:
RCV000119581
RCV001787966
RCV001787968
RCV001787965
RCV001787967
RCV000536735
RCV001787969
RCV002281942
RCV003325460
RCV001787970
RCV001787971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg552Trp
CA024299
NM_001042723.2:c.1654C>T