Allele Registry

Canonical Allele Identifier: PA2825200604

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001310405

ClinVar Variation:

1012447

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly2375Glu	CA405668249 NM_000540.3:c.7124G>A