Canonical Allele Identifier: PA915962565
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161379
ClinVar RCV Id: RCV000148831 RCV001244851
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2404Lys
CA024723
NM_001042723.2:c.7210G>A