ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830127726
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_542379.1:p.Glu87Gln
CA7081502
NM_080648.3:c.259G>C