Allele Registry

Canonical Allele Identifier: PA916008452

Gene: AP4B1 HGNC NCBI

ClinVar RCV:

RCV000145022

RCV000649276

RCV001797056

RCV001849319

RCV002514784

ClinVar Variation:

157724

539526

HGVS (amino-acid)	Matching Registered Transcripts
NP_001240782.1:p.Val94Ile	CA345963 NM_001253853.3:c.280G>A CA658795505 NM_001253853.3:c.279_280delinsTA