ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891865260
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590413
ClinVar RCV Id:
RCV000721286
RCV001449995
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Met4230Arg
CA405670927
NM_000540.3:c.12689T>G