Allele Registry

Canonical Allele Identifier: PA306817

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000182678

RCV000251690

RCV001186513

RCV002516868

ClinVar Variation:

201212

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Arg414Cys	CA007513 NM_001035.3:c.1240C>T