Allele Registry

Canonical Allele Identifier: PA231978

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119605

RCV000307345

RCV000310667

RCV000346959

RCV000391226

RCV000822159

RCV002492408

ClinVar Variation:

133122

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg999His	CA024384 NM_000540.3:c.2996G>A