Allele Registry

Canonical Allele Identifier: PA105819

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119565

RCV000721403

RCV001802864

ClinVar Variation:

133093

590474

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asp4939Glu	CA024264 NM_000540.3:c.14817C>A CA405692199 NM_000540.3:c.14817C>G