Allele Registry

Canonical Allele Identifier: PA645388147

Gene: RYR2 HGNC NCBI

ClinVar Allele:

414779

ClinVar RCV:

RCV000489848

ClinVar Variation:

427184

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Gln168Glu	CA345375521 NM_001035.3:c.502C>G