Allele Registry

Canonical Allele Identifier: PA232051

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056215

RCV000119671

RCV001580412

ClinVar Variation:

65968

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asn2283His	CA024656 NM_000540.3:c.6847A>C