Allele Registry

Canonical Allele Identifier: PA239412

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000173935

RCV000797894

RCV002485122

ClinVar Variation:

193772

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala4906Gly	CA024239 NM_000540.3:c.14717C>G