Canonical Allele Identifier: PA232005
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133144

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1728Phe
CA024494
NM_000540.3:c.5183C>T