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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.[Thr4387_Gly4398delinsProAlaThrArgCysThrAlaSerSerArg;Gly4401_Asp4402delinsArg;Asp4404_Gly4407delinsGluThrGlnThr;Ser4409_Gly4411delinsArgValPro;Gly4413_Ala4416delinsArgAlaLeuGluThrPro]
CA2584909153
NM_000540.3:c.13158del