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
ENSP00000347667.3:p.[Met2578_Thr2585delinsTyrAlaAlaTyrArgValProPro;Tyr2587_Leu2589del;Arg2591del;Arg2593del;Leu2595_Ala2598delinsPheAlaHis;Arg2600_Asp2605delinsGlyAlaAla;Leu2607_Cys2611del]
CA2584900597
ENST00000355481.8:c.7732_7742del