Allele Registry

Canonical Allele Identifier: PA913196175

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001592963

RCV002507354

RCV003992390

ClinVar Variation:

635269

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg163His	CA066494 NM_000540.3:c.488G>A