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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254331
Gene: DGUOK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8159
ClinVar RCV Id:
RCV000008637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_550438.1:p.Asp255Tyr
CA254330
NM_080916.3:c.763G>T