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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006723382.1:p.[Ser4350_Gly4359delinsCysCysSerAlaAla;Lys4361_Leu4369delinsTrpTrpArg;Gly4371_Met4372del;Asp4374_Glu4379delinsArgArg]
CA2814346223
XM_006723319.2:c.13049del