Allele Registry

Canonical Allele Identifier: PA2826933260

Gene: AP4B1 HGNC NCBI

ClinVar RCV:

RCV000649279

RCV002311984

ClinVar Variation:

539528

HGVS (amino-acid)	Matching Registered Transcripts
NP_001295241.1:p.Val132Leu	CA1015986 NM_001308312.2:c.394G>T CA341713165 NM_001308312.2:c.394G>C