Canonical Allele Identifier: PA105876
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133181
ClinVar RCV Id: RCV000119680 RCV001588959
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2348Gly
CA024686
NM_000540.3:c.7043A>G