Allele Registry

Canonical Allele Identifier: PA2826351252

Gene: AP4E1 HGNC NCBI

ClinVar RCV:

RCV002518399

ClinVar Variation:

242436

HGVS (amino-acid)	Matching Registered Transcripts
NP_001239056.1:p.Glu726Lys	CA351375 NM_001252127.2:c.2176G>A