Canonical Allele Identifier: PA915962598
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65980
ClinVar RCV Id: RCV000056227 RCV000119710 RCV000699835 RCV001787854 RCV001787855 RCV001787857 RCV001787859 RCV001787860 RCV000709760 RCV001787856 RCV001787858
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2454His
CA024781
NM_001042723.2:c.7361G>A