Allele Registry

Canonical Allele Identifier: PA891851755

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000687815

RCV001580413

RCV002227488

ClinVar Variation:

567662

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu487Pro	CA405688435 NM_000540.3:c.1460T>C