Canonical Allele Identifier: PA2825200477
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1482847
ClinVar RCV Id: RCV001995834

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile2321Phe
CA405667302
NM_000540.3:c.6961A>T