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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471601.2:p.[Gly2571delinsAlaGlnAsn;Glu2573_His2584delinsAlaProSerTrpTrpThrLeuCysCysIleProCys;Val2586_Arg2588delinsAlaCys;Ser2590_Gly2592delinsGlyValVal;Leu2595_Arg2600delinsProArgArgSerVal]
CA2584900596
ENST00000599547.6:c.7712del