Canonical Allele Identifier: PA2825198269
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004737
ClinVar RCV Id: RCV001301493

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala1700Thr
CA066671
NM_000540.3:c.5098G>A