Canonical Allele Identifier: PA2499235528
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072928
ClinVar RCV Id: RCV002550280

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Gly172Arg
CA345375569
NM_001035.3:c.514G>A
CA345375570
NM_001035.3:c.514G>C