This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.[Asp4380Thr;Thr4382_Gly4393delinsProAlaThrArgCysThrAlaSerSerArg;Gly4396_Asp4397delinsArg;Asp4399_Gly4402delinsGluThrGlnThr;Ser4404_Gly4406delinsArgValPro;Gly4408_Asp4409delinsArgAlaLeuGlu]
CA2584909152
NM_001042723.2:c.13137del