Canonical Allele Identifier: PA2825195587
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2066582
ClinVar RCV Id: RCV002949165 RCV003134558
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg492Gly
CA061580
NM_000540.3:c.1474C>G