ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658740994
Gene: DGUOK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550438.1:p.Ser52Phe
CA347297422
NM_080916.3:c.155C>T