Allele Registry

Canonical Allele Identifier: PA1139673043

Gene: RYR1 HGNC NCBI

ClinVar Variation Id: 892730

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Phe4363Leu	CA059563 NM_000540.3:c.13089C>A CA405673404 NM_000540.3:c.13087T>C CA405673413 NM_000540.3:c.13089C>G