Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

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.Gly248Arg	CA024797 ENST00000359596.7:c.742G>A CA024799 ENST00000359596.7:c.742G>C