Canonical Allele Identifier: PA2825202245
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1710274
ClinVar RCV Id: RCV002291201

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly3254Arg
CA405691863
NM_000540.3:c.9760G>A
CA405691869
NM_000540.3:c.9760G>C