ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580503059
Gene: APEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2363639
ClinVar RCV Id:
RCV004201804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542380.1:p.Val131Met
CA7081529
NM_080649.3:c.391G>A