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
NP_000531.2:p.Glu4683Asp
CA405682141
NM_000540.3:c.14049G>C
CA405682142
NM_000540.3:c.14049G>T