Allele Registry

Canonical Allele Identifier: PA132927

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000036665

RCV002482979

RCV002513400

RCV003996243

ClinVar Variation:

43713

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Gln388Arg	CA007114 NM_001035.3:c.1163A>G