Allele Registry

Canonical Allele Identifier: PA658681893

Gene: RYR2 HGNC NCBI

ClinVar Allele:

448001

ClinVar RCV:

RCV000786201

RCV002527801

ClinVar Variation:

463577

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Lys4751Glu	CA345423159 NM_001035.3:c.14251A>G