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
XP_006723380.1:p.[Pro4393_Asp4396delinsArgAlaGluThrGlnThr;Asp4398_Gly4401delinsArgValProAlaArg;Ser4403Leu;Gly4405_Asp4408delinsThrProArgArg;Ala4410Leu;Gly4412_Glu4422delinsThrArgArgArgArgCysThrArg]
CA2814346292
XM_006723317.2:c.13178del