Canonical Allele Identifier: PA2741816878
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780359
ClinVar RCV Id: RCV003757304

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4343Pro
CA405673068
NM_000540.3:c.13027G>C