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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.[Gly4353del;Leu4355_Leu4358delinsTrp;Gly4360_Gly4370delinsArg;Lys4372_Met4383del;Asp4385_Gln4395delinsArgArg]
CA2584909146
NM_000540.3:c.13058_13097del