Allele Registry

Canonical Allele Identifier: PA2826362737

Gene: AP4B1 HGNC NCBI

ClinVar RCV:

RCV000425918

RCV000463656

RCV001251671

RCV001821192

RCV001848780

RCV002313102

RCV003912733

ClinVar Variation:

386852

HGVS (amino-acid)	Matching Registered Transcripts
NP_001240781.1:p.Val252Ala	CA1016017 NM_001253852.3:c.755T>C