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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354254.4:p.[Gly4347del;Leu4349_Leu4352delinsTrp;Gly4354_Gly4364delinsArg;Lys4366_Met4377del;Asp4379_Gln4389delinsArgArg]
CA2584909146
ENST00000360985.7:c.13040_13079del