Canonical Allele Identifier: PA2825200738
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210314
ClinVar RCV Id: RCV001580427

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2452Pro
CA405669968
NM_000540.3:c.7355G>C