ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580139003
Gene: ACO2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001089.1:p.Arg679His
CA324583408
NM_001098.3:c.2036G>A