ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826360353
Gene: APEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2383992
ClinVar RCV Id:
RCV004219732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001231178.1:p.Gly145Ser
CA7081543
NM_001244249.2:c.433G>A