Canonical Allele Identifier: PA2580146968
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040380
ClinVar RCV Id: RCV002886394

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2244Gln
CA068612
NM_001042723.2:c.6731G>A