Canonical Allele Identifier: PA2499236750
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210298
ClinVar RCV Id: RCV001580389

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp544Tyr
CA308123345
NM_001042723.2:c.1630G>T