Allele Registry

Canonical Allele Identifier: PA2499236899

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001310405

ClinVar Variation:

1012447

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Gly2375Glu	CA405668249 NM_001042723.2:c.7124G>A