Canonical Allele Identifier: PA2825422105
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2027506
ClinVar RCV Id: RCV002858664

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Lys4205del
CA2500957471
NM_001042723.2:c.12613_12615del