Allele Registry

Canonical Allele Identifier: PA231949

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056182

RCV000119573

RCV001854160

ClinVar Variation:

65935

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu512Lys	CA024284 NM_000540.3:c.1534G>A