Allele Registry

Canonical Allele Identifier: PA915962177

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119610

RCV000456108

RCV001580435

RCV002483207

RCV002515808

ClinVar Variation:

133126

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg1140Cys	CA024397 NM_001042723.2:c.3418C>T