Canonical Allele Identifier: PA915962538
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 573252
ClinVar RCV Id: RCV000694878 RCV001592885 RCV003159153 RCV003235355
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2359Gln
CA405667952
NM_001042723.2:c.7076G>A