ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825202290
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1303276
ClinVar RCV Id:
RCV001757831
RCV001803394
RCV001882824
RCV004008983
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg3283Gln
CA074227
NM_000540.3:c.9848G>A