ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825202355
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
864497
ClinVar RCV Id:
RCV001071703
RCV001355156
RCV004000205
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala3300Val
CA074314
NM_000540.3:c.9899C>T