Canonical Allele Identifier: PA2825198575
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2909223
ClinVar RCV Id: RCV003757025

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro1780Leu
CA9415808
NM_000540.3:c.5339C>T