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.Met1729Ile
CA405654097
ENST00000599547.6:c.5187G>A
CA405654098
ENST00000599547.6:c.5187G>C
CA405654100
ENST00000599547.6:c.5187G>T