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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.[Ile2614del;Pro2616Gly;Met2618_Met2639delinsAlaArgArgCysCysSerThrCysCysAlaAlaTrpCysSerThrCysProSerSerThrSerSer;Leu2641_Leu2643delinsArgCysHisSerSerSer]
CA082719
ENST00000599547.6:c.7840_7841insGGGGC