ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826360357
Gene: APEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1297236
ClinVar RCV Id:
RCV001724940
RCV003976102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001231178.1:p.Asp148Glu
CA7081564
NM_001244249.2:c.444T>G
CA7081565
NM_001244249.2:c.444T>A