Allele Registry

Canonical Allele Identifier: PA2826538293

Gene: AP3B1 HGNC NCBI

ClinVar RCV:

RCV001886132

ClinVar Variation:

1379948

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258698.1:p.Trp190Leu	CA360190856 NM_001271769.2:c.569G>T