ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580504751
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1938774
ClinVar RCV Id:
RCV002662808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550440.1:p.Leu6Phe
CA347296574
NM_080918.3:c.16C>T