Allele Registry

Canonical Allele Identifier: PA105558

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119503

RCV001380753

RCV002498548

RCV003231155

ClinVar Variation:

133061

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4737Gln	CA024118 NM_000540.3:c.14210G>A