Allele Registry

Canonical Allele Identifier: PA2499243242

Gene: AP3D1 HGNC NCBI

ClinVar RCV:

RCV001323198

RCV002546101

ClinVar Variation:

1023191

HGVS (amino-acid)	Matching Registered Transcripts
NP_001248755.1:p.Ile1134Leu	CA9058403 NM_001261826.3:c.3400A>C