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_011525507.1:p.Glu2348del
CA024679
XM_011527205.2:c.7042_7044del
CA082295
XM_011527205.2:c.7039G>T
CA405667793
XM_011527205.2:c.7042G>T