ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250421
Gene: ACO2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001089.1:p.Arg607Cys
CA250420
NM_001098.3:c.1819C>T