Allele Registry

Canonical Allele Identifier: PA2828086499

Gene: CCM2 HGNC NCBI

ClinVar RCV:

RCV000248409

RCV000625099

RCV001706363

ClinVar Variation:

261965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350387.1:p.Val53Ile	CA4246881 NM_001363458.2:c.157G>A