ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805429
Gene: DGUOK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550438.1:p.Ala217Thr
CA1718313
NM_080916.3:c.649G>A