Allele Registry

Canonical Allele Identifier: PA211782

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000148819

RCV000501380

RCV000520385

RCV000534955

RCV000855482

RCV001198313

RCV003998172

RCV004017422

ClinVar Variation:

161372

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg1469Trp	CA024441 NM_000540.3:c.4405C>T