Canonical Allele Identifier: PA2825198485
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657976

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr1769Ile
CA405654581
NM_000540.3:c.5306C>T