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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.[Ala4344_Gly4347delinsGlyArgArg;Leu4349_Gly4354delinsArgTrpAlaCys;Leu4356_Phe4357del;Gly4359_Gly4364delinsAlaArgCysSerAlaAla;Lys4366_Leu4373delinsTrpTrpArgAlaProArgArg]
CA2814346203
ENST00000360985.7:c.13031del