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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.[Ser4361_Gly4370delinsCysCysSerAlaAla;Lys4372_Leu4380delinsTrpTrpArg;Gly4382_Met4383del;Asp4385_Glu4390delinsArgArg]
CA2814346223
NM_000540.3:c.13082del