Allele Registry

Canonical Allele Identifier: PA658804800

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000626709

RCV001803461

ClinVar Variation:

523379

1330368

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Trp3284Arg	CA405692341 NM_000540.3:c.9850T>A CA405692345 NM_000540.3:c.9850T>C