Allele Registry

Canonical Allele Identifier: PA105263

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119636

RCV000534082

RCV001588953

ClinVar Variation:

133147

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg177Cys	CA024503 NM_000540.3:c.529C>T