Canonical Allele Identifier: PA221140
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93291
ClinVar RCV Id: RCV000079169 RCV001802768 RCV003997201 RCV002514390
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2591Gly
CA024847
NM_000540.3:c.7771C>G