ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830127739
Gene: APEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542379.1:p.Asp148Glu
CA7081564
NM_080648.3:c.444T>G
CA7081565
NM_080648.3:c.444T>A