Canonical Allele Identifier: PA2741827664
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689897
ClinVar RCV Id: RCV003491422

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2330Cys
CA068962
NM_001042723.2:c.6988C>T