Canonical Allele Identifier: PA2825423061
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572559
ClinVar RCV Id: RCV000693968
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly4891Arg
CA405690275
NM_001042723.2:c.14671G>A
CA405690279
NM_001042723.2:c.14671G>C