Allele Registry

Canonical Allele Identifier: PA2829458071

Gene: AP3D1 HGNC NCBI

ClinVar RCV:

RCV001515565

RCV003980538

ClinVar Variation:

1166875

HGVS (amino-acid)	Matching Registered Transcripts
NP_003929.4:p.Ile1072Val	CA9058402 NM_003938.6:c.3214A>G