Allele Registry

Canonical Allele Identifier: PA272970

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000148815

RCV003441757

ClinVar Variation:

161368

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly707Ser	CA024327 NM_000540.3:c.2119G>A