Canonical Allele Identifier: PA2499236787
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004737
ClinVar RCV Id: RCV001301493

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala1700Thr
CA066671
NM_001042723.2:c.5098G>A