Allele Registry

Canonical Allele Identifier: PA2825423105

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001046203

RCV002249652

ClinVar Variation:

843552

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Thr4915Ile	CA405690861 NM_001042723.2:c.14744C>T