Canonical Allele Identifier: PA2580146823
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435623

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1820Cys
CA067103
NM_001042723.2:c.5458C>T