Allele Registry

Canonical Allele Identifier: PA105665

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119578

RCV000148808

RCV000543445

RCV000853506

RCV002505054

RCV003993812

ClinVar Variation:

133103

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg533His	CA024295 NM_000540.3:c.1598G>A