Allele Registry

Canonical Allele Identifier: PA1139700076

Gene: AP3B1 HGNC NCBI

ClinVar RCV:

RCV001037028

ClinVar Variation:

836008

HGVS (amino-acid)	Matching Registered Transcripts
NP_003655.3:p.Val585Ala	CA360187802 NM_003664.5:c.1754T>C