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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:
PA245931
Gene: UGT1A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197672
ClinVar RCV Id:
RCV000178772
RCV002478593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_995584.1:p.Pro183Leu
CA245929
NM_205862.3:c.548C>T