Allele Registry

Canonical Allele Identifier: PA2826283067

Gene: CAV3 HGNC NCBI

ClinVar RCV:

RCV000008787

RCV000024416

ClinVar Variation:

8290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001225.1:p.Glu47Lys	CA119449 NM_001234.5:c.139G>A