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.Met2250Ile
CA405666339
ENST00000599547.6:c.6750G>A
CA405666340
ENST00000599547.6:c.6750G>C
CA405666341
ENST00000599547.6:c.6750G>T