Canonical Allele Identifier: PA2825198338
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 998534

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1725Arg
CA066728
NM_000540.3:c.5175C>A
CA405654054
NM_000540.3:c.5173A>C
CA405654063
NM_000540.3:c.5175C>G