This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: APEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542379.1:p.[Arg202_Lys203delinsGluSer;Val206_Leu207delinsCys;Gly209_Ala214delinsValGluThrSerMetTrp;Glu216_Asn222delinsMetLysLysLeuThrPheAlaThr;Lys224Arg;Asn226Thr;Lys228_Gly231delinsArgMetLeuAla]
CA2122041849
NM_080648.3:c.604del