Allele Registry

Canonical Allele Identifier: PA1139673540

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001046203

RCV002249652

ClinVar Variation:

843552

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Thr4920Ile	CA405690861 NM_000540.3:c.14759C>T