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Canonical Allele Identifier: Get Identifier
Gene: APEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542379.1:p.[Lys228_Asn229delinsArgMetLeu;Gly231_Gln238delinsSerArgHisLysSerAlaLysAlaSer;Phe240_Leu243delinsAsnTyrCysArg;Gln245_Leu249delinsCysHisTrpLeuThr;Asp251_Tyr257delinsLeuGlyThrSerThr]
CA2624007458
NM_080648.3:c.683del