Canonical Allele Identifier: PA2580146794
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2175784
ClinVar RCV Id: RCV002582056

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala1743Thr
CA405654230
NM_001042723.2:c.5227G>A