Allele Registry

Canonical Allele Identifier: PA105689

Gene: RYR1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

28003

ClinVar RCV:

RCV000013830

RCV000119586

RCV000538121

RCV000608635

RCV000624176

RCV001787388

RCV001787389

RCV001787390

RCV001787391

RCV001787392

RCV001787393

RCV001787394

RCV002496349

ClinVar Variation:

12964

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg614Cys	CA024311 NM_000540.3:c.1840C>T