Canonical Allele Identifier: PA231821
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133042
ClinVar RCV Id: RCV000119467 RCV001450008
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4283Val
CA024011
NM_000540.3:c.12848A>T