ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962903
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651289
ClinVar RCV Id:
RCV000806613
RCV001198333
RCV004001687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro3292Ser
CA074266
NM_001042723.2:c.9874C>T