Canonical Allele Identifier: PA2499233177
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054523
ClinVar RCV Id: RCV001363043

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4356Cys
CA405673311
NM_000540.3:c.13066G>T