Allele Registry

Canonical Allele Identifier: PA2828552274

Gene: AP3D1 HGNC NCBI

ClinVar RCV:

RCV001323198

RCV002546101

ClinVar Variation:

1023191

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361728.1:p.Ile1122Leu	CA9058403 NM_001374799.1:c.3364A>C