ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830164407
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1319234
ClinVar RCV Id:
RCV001885106
RCV003911009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550438.1:p.Val67Ile
CA1718196
NM_080916.3:c.199G>A