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
ENSP00000352608.2:p.Arg2199Ser
CA405665781
ENST00000359596.7:c.6597G>C
CA405665783
ENST00000359596.7:c.6597G>T