ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825423096
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65991
ClinVar RCV Id:
RCV000056238
RCV000119557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg4909Thr
CA024244
NM_001042723.2:c.14726G>C