Canonical Allele Identifier: PA2825200473
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2109477

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr2318His
CA405667266
NM_000540.3:c.6952T>C