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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.[Ala4346_Ala4347insGlyGlyArg;Gly4348_Ala4349insPro;Leu4353_Phe4358delinsAlaValArgArgArgPro;Leu4362_Val4363delinsArgGln;Ala4366_Ala4376delinsAspGlyAspArgAlaProGly]
CA2584909147
NM_001042723.2:c.13039dup