Allele Registry

Canonical Allele Identifier: PA915962755

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119756

RCV001235904

RCV001802884

RCV003987366

ClinVar Variation:

133232

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Glu2880Lys	CA024939 NM_001042723.2:c.8638G>A