Canonical Allele Identifier: PA2825198258
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 940420

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu1698Lys
CA066664
NM_000540.3:c.5092G>A