ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916058181
Gene: DGUOK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550440.1:p.Glu44Lys
CA1718150
NM_080918.3:c.130G>A