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.Asp2730Gly
CA024896
ENST00000599547.6:c.8189A>G
CA2580097229
ENST00000599547.6:c.8189_8190delinsGC