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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.[Pro175_Leu176insArg;Val177delinsProGluSerPro;Gly180_Asp190delinsCysValGluThrSerMetTrpHisMetLysLys;Arg192_Asn193delinsThrPheAlaThr;Lys195Arg;Asn197Thr;Lys199_Pro205delinsArgMetLeuAlaSerArgHis]
CA2624007312
ENST00000555839.5:c.510_526dup