ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891865070
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590492
ClinVar RCV Id:
RCV000721434
RCV001803955
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Cys64Arg
CA308110136
NM_000540.3:c.190T>C