Allele Registry

Canonical Allele Identifier: PA232095

Gene: RYR1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000013831

RCV000119713

RCV000119714

RCV000704587

RCV001851834

RCV002281946

RCV003330082

RCV004017237

ClinVar Variation:

12965

133203

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly248Arg	CA024797 NM_000540.3:c.742G>A CA024799 NM_000540.3:c.742G>C