Allele Registry

Canonical Allele Identifier: PA645456505

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000420141

ClinVar Variation:

379719

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Thr4832Asn	CA16607807 NM_000540.3:c.14495C>A