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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006723380.1:p.[Gly4347del;Leu4349_Leu4352delinsTrp;Gly4354_Gly4364delinsArg;Lys4366_Met4377del;Asp4379_Gln4389delinsArgArg]
CA2584909146
XM_006723317.2:c.13040_13079del