Canonical Allele Identifier: PA2825198436
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070850
ClinVar RCV Id: RCV004013360

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1752Arg
CA405654314
NM_000540.3:c.5254A>C
CA405654320
NM_000540.3:c.5256C>A
CA405654322
NM_000540.3:c.5256C>G