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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.[Leu2619_Val2630delinsCysSerThrCysCysAlaAlaTrpCysSerThrCys;Ile2632_Tyr2648delinsSerSerThrSerSerProArgCysHisSerSerSerSerProThrThrMet]
CA2584901126
ENST00000599547.6:c.7855del