ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961468
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
635269
ClinVar RCV Id:
RCV002507354
RCV001592963
RCV003992390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg163His
CA066494
NM_001042723.2:c.488G>A