ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681117
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478270
ClinVar RCV Id:
RCV000558376
RCV002476209
RCV003129926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2398Cys
CA069218
NM_000540.3:c.7192C>T