Allele Registry

Canonical Allele Identifier: PA231789

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119445

RCV001450003

ClinVar Variation:

133025

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Trp3985Arg	CA023949 NM_000540.3:c.11953T>C CA405662852 NM_000540.3:c.11953T>A