Allele Registry

Canonical Allele Identifier: PA645390918

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000316066

RCV000375356

RCV001509128

RCV002348036

RCV002522123

ClinVar Variation:

296758

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Ser4028Leu	CA085122 NM_001035.3:c.12083C>T