Allele Registry

Canonical Allele Identifier: PA105583

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056233

RCV000119532

RCV000695782

RCV001731348

RCV001802228

RCV003156069

ClinVar Variation:

65986

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4861Cys	CA024185 NM_000540.3:c.14581C>T