Canonical Allele Identifier: PA246584
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198090

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu176Lys
CA024501
NM_000540.3:c.526G>A