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
ENSP00000471601.2:p.Glu247Asp
CA405680184
ENST00000599547.6:c.741G>C
CA405680189
ENST00000599547.6:c.741G>T