ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825421761
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133017
ClinVar RCV Id:
RCV000119437
RCV001389265
RCV001580388
RCV004017404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg3898Gln
CA023926
NM_001042723.2:c.11693G>A