Allele Registry

Canonical Allele Identifier: PA645456022

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000415190

RCV000785058

RCV001764347

RCV004530517

ClinVar Variation:

374200

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg282Trp	CA16043552 NM_000540.3:c.844C>T