ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830164545
Gene: DGUOK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550440.1:p.Arg142Lys
CA254328
NM_080918.3:c.425G>A