Allele Registry

Canonical Allele Identifier: PA111536

Gene: AP3B1 HGNC NCBI

ClinVar RCV:

RCV000006744

ClinVar Variation:

6372

HGVS (amino-acid)	Matching Registered Transcripts
NP_003655.3:p.Leu580Arg	CA340563 NM_003664.5:c.1739T>G