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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:
PA916071053
Gene: UGT1A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420162
ClinVar RCV Id:
RCV000482866
RCV004527589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_995584.1:p.Gly94Ser
CA2179986
NM_205862.3:c.280G>A