Canonical Allele Identifier: PA891865099
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590486
ClinVar RCV Id: RCV000721424 RCV001052918 RCV002227492 RCV002485819 RCV003999829
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu572Ala
CA062364
NM_000540.3:c.1715A>C