Allele Registry

Canonical Allele Identifier: PA088654

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000208489

RCV001194102

RCV002381717

RCV002494544

RCV002515553

ClinVar Variation:

222794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Met4279Ile	CA085245 NM_001035.3:c.12837G>A CA345414392 NM_001035.3:c.12837G>C CA345414394 NM_001035.3:c.12837G>T