ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825200983
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2724512
ClinVar RCV Id:
RCV003593009
RCV004011383
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Phe2569Cys
CA308112023
NM_000540.3:c.7706T>G