ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891865124
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590508
ClinVar RCV Id:
RCV000721479
RCV001592928
RCV002535004
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg975Gln
CA064203
NM_000540.3:c.2924G>A