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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.[Thr204_Gln209delinsLysSerAlaLysAlaSer;Phe211_Leu214delinsAsnTyrCysArg;Gln216_Leu220delinsCysHisTrpLeuThr;Asp222_Tyr228delinsLeuGlyThrSerThr;Asn230_Thr231delinsThrHis;Tyr233_Tyr235delinsMetProThr]
CA2122042044
ENST00000555839.5:c.611_617del