ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826360343
Gene: APEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
443999
ClinVar RCV Id:
RCV000626483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001231178.1:p.Glu87Gln
CA7081502
NM_001244249.2:c.259G>C