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Canonical Allele Identifier: Get Identifier
Gene: APEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005267639.1:p.[Arg185_Lys186delinsGluSer;Val189_Leu190delinsCys;Gly192_Ala197delinsValGluThrSerMetTrp;Glu199_Asn205delinsMetLysLysLeuThrPheAlaThr;Lys207Arg;Asn209Thr;Lys211_Gly214delinsArgMetLeuAla]
CA2122041849
XM_005267582.3:c.553del