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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347667.3:p.[Gly4348del;Leu4350_Leu4353delinsTrp;Gly4355_Gly4365delinsArg;Lys4367_Met4378del;Asp4380_Gln4390delinsArgArg]
CA2584909146
ENST00000355481.8:c.13043_13082del