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
ENSP00000354254.4:p.[Ala4298_Arg4316delinsProCysGluAlaSerAlaThrAlaAlaCysGlyGlyAlaCysGlyGlyCysGlyGly;Thr4318delinsArgPro;Glu4321_Ala4327delinsArgProProGlnTrpArg]
CA2814346152
ENST00000360985.7:c.12892del