ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825200559
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
860398
ClinVar RCV Id:
RCV001066687
RCV002482105
RCV004000162
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2355Gln
CA069098
NM_000540.3:c.7064G>A