Canonical Allele Identifier: PA2580146981
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1723765
ClinVar RCV Id: RCV002306326

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp2393Ala
CA069214
NM_001042723.2:c.7178A>C