Allele Registry

Canonical Allele Identifier: PA105612

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056235

RCV000119546

RCV001218792

RCV001588887

RCV004018985

ClinVar Variation:

65988

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4893Gln	CA024221 NM_000540.3:c.14678G>A