Allele Registry

Canonical Allele Identifier: PA915962514

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000119673

RCV000554523

RCV001787972

RCV001787973

RCV001787974

RCV001787975

RCV001787976

RCV001787977

RCV001787978

RCV001824615

RCV002281943

ClinVar Variation:

133174

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2336His	CA024662 NM_001042723.2:c.7007G>A