Allele Registry

Canonical Allele Identifier: PA658668539

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000545985

RCV000721329

ClinVar Variation:

478188

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu4568Arg	CA405678840 NM_000540.3:c.13703T>G