Allele Registry

Canonical Allele Identifier: PA2825422047

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001057328

RCV002051703

RCV003221969

ClinVar Variation:

374083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Gly4173Ser	CA16043557 NM_001042723.2:c.12517G>A