ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962803
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424556
ClinVar RCV Id:
RCV000482428
RCV000535216
RCV000764192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg3093Cys
CA16620838
NM_001042723.2:c.9277C>T