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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.[Ala4346_Ala4348delinsLeuAlaArg;Ala4350_Gly4353delinsArgArgArg;Leu4355_Trp4359delinsArgTrpAlaCysSer;Ser4361_Gly4370delinsAlaArgCysSerAlaAlaAlaTrpTrpArg;Lys4372_Thr4375delinsProArgArg]
CA2584909141
NM_000540.3:c.13036del