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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011525506.1:p.[Asp4384Thr;Thr4386_Gly4397delinsProAlaThrArgCysThrAlaSerSerArg;Gly4400_Asp4401delinsArg;Asp4403_Gly4406delinsGluThrGlnThr;Ser4408_Gly4410delinsArgValPro;Gly4412_Asp4413delinsArgAlaLeuGlu]
CA2584909152
XM_011527204.1:c.13149del