Canonical Allele Identifier: PA2573064804
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330369
ClinVar RCV Id: RCV001803462 RCV002478032
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu3290Lys
CA308129882
NM_001042723.2:c.9868G>A