Canonical Allele Identifier: PA2499236875
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 998534

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser1725Arg
CA066728
NM_001042723.2:c.5175C>A
CA405654054
NM_001042723.2:c.5173A>C
CA405654063
NM_001042723.2:c.5175C>G