Allele Registry

Canonical Allele Identifier: PA2825421840

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119445

RCV001450003

ClinVar Variation:

133025

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Trp3980Arg	CA023949 NM_001042723.2:c.11938T>C CA405662852 NM_001042723.2:c.11938T>A