Allele Registry

Canonical Allele Identifier: PA171109

Gene: AP4B1 HGNC NCBI

ClinVar RCV:

RCV000145016

RCV000986397

RCV001847774

RCV002312627

ClinVar Variation:

157718

HGVS (amino-acid)	Matching Registered Transcripts
NP_006585.2:p.Leu480Ser	CA171108 NM_006594.5:c.1439T>C