Allele Registry

Canonical Allele Identifier: PA105930

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056187

RCV000119652

RCV003996485

ClinVar Variation:

65940

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly215Glu	CA024583 NM_000540.3:c.644G>A