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Canonical Allele Identifier: Get Identifier
Gene: APEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000452460.1:p.[Arg173_Lys174delinsGluSer;Val177_Leu178delinsCys;Gly180_Ala185delinsValGluThrSerMetTrp;Glu187_Asn193delinsMetLysLysLeuThrPheAlaThr;Lys195Arg;Asn197Thr;Lys199_Gly202delinsArgMetLeuAla]
CA2122041849
ENST00000555839.5:c.517del