Allele Registry

Canonical Allele Identifier: PA231917

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056234

RCV000119547

ClinVar Variation:

65987

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4893Pro	CA024223 NM_000540.3:c.14678G>C