Canonical Allele Identifier: PA2499236799
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051940
ClinVar RCV Id: RCV001360045

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2338Val
CA405667478
NM_001042723.2:c.7013C>T