Allele Registry

Canonical Allele Identifier: PA146803

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000079142

RCV000119615

RCV000209973

RCV000260420

RCV000555541

RCV001125254

ClinVar Variation:

93265

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ser1342Gly	CA024415 NM_000540.3:c.4024A>G