Allele Registry

Canonical Allele Identifier: PA105296

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119655

RCV001580443

ClinVar Variation:

133159

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg2163Pro	CA024596 NM_000540.3:c.6488G>C