Allele Registry

Canonical Allele Identifier: PA915962452

Gene: RYR1 HGNC NCBI

ClinVar Allele:

581517

ClinVar RCV:

RCV000721612

RCV001592929

RCV003591776

ClinVar Variation:

590571

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2163Leu	CA405664296 NM_001042723.2:c.6488G>T