ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239005
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193482
ClinVar RCV Id:
RCV000173554
RCV000660620
RCV003975258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550438.1:p.Ala2Ser
CA239004
NM_080916.3:c.4G>T