Canonical Allele Identifier: PA891851964
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 575350
ClinVar Variation Id: 1355275
ClinVar RCV Id: RCV001866834

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2625Cys
CA070926
NM_000540.3:c.7873C>T
CA2573156352
NM_000540.3:c.7872_7873delinsTT