Canonical Allele Identifier: PA915962776
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590622
ClinVar RCV Id: RCV000721722 RCV001230557
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2987Gln
CA072992
NM_001042723.2:c.8959G>C