Allele Registry

Canonical Allele Identifier: PA658804660

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000655525

RCV000658830

RCV001729679

RCV002250674

RCV003334390

RCV004004138

RCV004525996

ClinVar Variation:

544398

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu417Pro	CA059053 NM_000540.3:c.1250T>C