Canonical Allele Identifier: PA1139680032
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 940420

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu1698Lys
CA066664
NM_001042723.2:c.5092G>A