Allele Registry

Canonical Allele Identifier: PA2499243241

Gene: AP3D1 HGNC NCBI

ClinVar RCV:

RCV001515565

RCV003980538

ClinVar Variation:

1166875

HGVS (amino-acid)	Matching Registered Transcripts
NP_001248755.1:p.Ile1134Val	CA9058402 NM_001261826.3:c.3400A>G