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Canonical Allele Identifier: Get Identifier
Gene: APEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451979.1:p.[Pro204_Leu205insArg;Val206delinsProGluSerPro;Gly209_Asp219delinsCysValGluThrSerMetTrpHisMetLysLys;Arg221_Asn222delinsThrPheAlaThr;Lys224Arg;Asn226Thr;Lys228_Pro234delinsArgMetLeuAlaSerArgHis]
CA2624007312
ENST00000555414.5:c.597_613dup