Allele Registry

Canonical Allele Identifier: PA915962422

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000303533

RCV000358367

RCV000393407

RCV000398295

RCV003320631

ClinVar Variation:

329049

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2118Pro	CA068150 NM_001042723.2:c.6353G>C