This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: AP4B1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000518881.1:p.[Leu104_Cys110delinsArgArgTyrGlyAlaCysValAla;Leu112_Glu119delinsGlyCysLeuValCysArgSerIle;Ile121_Asn127delinsAsnSerLeuPheSerMetValCys;Leu129Ile;Asp131_Ala133delinsLeu]
CA2573130932
ENST00000460653.2:c.311del