Allele Registry

Canonical Allele Identifier: PA915961480

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119636

RCV000534082

RCV001588953

ClinVar Variation:

133147

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg177Cys	CA024503 NM_001042723.2:c.529C>T