ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961459
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133137
ClinVar RCV Id:
RCV000119626
RCV001588949
RCV003227656
RCV003227657
RCV003227658
RCV003227659
RCV003227661
RCV003227660
RCV003227662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg163Leu
CA024467
NM_001042723.2:c.488G>T