Canonical Allele Identifier: PA2825198632
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435562
ClinVar RCV Id: RCV003135851

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1797Cys
CA405654982
NM_000540.3:c.5389C>T