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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.[Asp4379Thr;Thr4381_Gly4392delinsProAlaThrArgCysThrAlaSerSerArg;Gly4395_Asp4396delinsArg;Asp4398_Gly4401delinsGluThrGlnThr;Ser4403_Gly4405delinsArgValPro;Gly4407_Asp4408delinsArgAlaLeuGlu]
CA2584909152
ENST00000360985.7:c.13134del