Allele Registry

Canonical Allele Identifier: PA915961690

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119578

RCV000148808

RCV000543445

RCV000853506

RCV002505054

RCV003993812

ClinVar Variation:

133103

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg533His	CA024295 NM_001042723.2:c.1598G>A