Canonical Allele Identifier: PA1139678237
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 862756
ClinVar RCV Id: RCV001069541

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile568Val
CA405691063
NM_001042723.2:c.1702A>G