Canonical Allele Identifier: PA2825195853
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1508794
ClinVar RCV Id: RCV002016362

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr639Cys
CA062571
NM_000540.3:c.1916A>G