Allele Registry

Canonical Allele Identifier: PA175261

Gene: AP3B1 HGNC NCBI

ClinVar RCV:

RCV000150163

RCV000324616

RCV001511630

RCV001682862

ClinVar Variation:

162753

HGVS (amino-acid)	Matching Registered Transcripts
NP_003655.3:p.Val585Glu	CA175259 NM_003664.5:c.1754T>A