Allele Registry

Canonical Allele Identifier: PA2828552273

Gene: AP3D1 HGNC NCBI

ClinVar RCV:

RCV001515565

RCV003980538

ClinVar Variation:

1166875

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361728.1:p.Ile1122Val	CA9058402 NM_001374799.1:c.3364A>G