ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827022001
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193482
ClinVar RCV Id:
RCV000173554
RCV000660620
RCV003975258
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305788.1:p.Ala2Ser
CA239004
NM_001318859.2:c.4G>T