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.Asp2516Glu
CA405670440
ENST00000599547.6:c.7548C>A
CA405670441
ENST00000599547.6:c.7548C>G