Canonical Allele Identifier: PA915962339
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657976

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr1769Ile
CA405654581
NM_001042723.2:c.5306C>T