Canonical Allele Identifier: PA2825194987
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1214005
ClinVar RCV Id: RCV001591948

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp60Tyr
CA405673698
NM_000540.3:c.178G>T