Canonical Allele Identifier: PA2825198399
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2143709
ClinVar RCV Id: RCV003068023

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1742His
CA066779
NM_000540.3:c.5225G>A