Allele Registry

Canonical Allele Identifier: PA132958

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000036724

RCV000726778

RCV001178115

RCV001248788

RCV003996271

RCV004018807

ClinVar Variation:

43765

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Arg1051His	CA009104 NM_001035.3:c.3152G>A