Canonical Allele Identifier: PA658681117
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478270

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2398Cys
CA069218
NM_000540.3:c.7192C>T