Allele Registry

Canonical Allele Identifier: PA658801841

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV001569166

RCV002060740

ClinVar Variation:

532384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Phe4851Leu	CA345426582 NM_001035.3:c.14551T>C CA345426597 NM_001035.3:c.14553C>A CA345426598 NM_001035.3:c.14553C>G