Allele Registry

Canonical Allele Identifier: PA248299

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000180737

RCV000286783

RCV000341804

RCV000376367

RCV000400216

RCV000721299

RCV001085625

ClinVar Variation:

199217

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg4319Gln	CA024020 NM_000540.3:c.12956G>A