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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.[Val4821_Val4842delinsGlyGlnAspAlaAlaHisHisProValLeuCysHisProGlnTrpGluThrAlaGlyAspAspArg;Leu4844_Tyr4850delinsProSerGlyGlyGlyArgLeu]
CA2839675522
NM_000540.3:c.14461dup