Allele Registry

Canonical Allele Identifier: PA289152

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056206

RCV000119484

RCV001066791

ClinVar Variation:

65959

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu4568Pro	CA024069 NM_000540.3:c.13703T>C