ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830164554
Gene: DGUOK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550440.1:p.Asn165Ser
CA322951
NM_080918.3:c.494A>G