Canonical Allele Identifier: PA2825200675
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004193
ClinVar RCV Id: RCV001300863
ClinVar Variation Id: 2722910
ClinVar RCV Id: RCV003592958

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2403His
CA069241
NM_000540.3:c.7208G>A
CA2697556575
NM_000540.3:c.7208_7209delinsAT