Canonical Allele Identifier: PA915962522
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590579
ClinVar RCV Id: RCV000721635

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2348Lys
CA082310
NM_001042723.2:c.7042G>A