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
ENSP00000452418.1:p.Ile129Leu
CA389131202
ENST00000557150.5:c.385A>C
CA389131207
ENST00000557150.5:c.385A>T