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Canonical Allele Identifier: Get Identifier
Gene: AP4B1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000358577.2:p.[Gly234_Tyr240delinsValThrLeuAlaAlaThrThr;Lys242Ser;Cys245_Glu249delinsAlaProThrArgSer;His251_Gln256delinsThrThrSerAsnTyrArg;Val258_Glu263delinsTrpArgCysCysValAsn]
CA2573130937
ENST00000369564.6:c.701del