Canonical Allele Identifier: PA2499236845
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210307
ClinVar RCV Id: RCV001580409

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu487Val
CA405688428
NM_001042723.2:c.1459C>G