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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:
PA2826006688
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
549546
ClinVar RCV Id:
RCV000664146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159395.1:p.Ala167Pro
CA398751228
NM_001165923.4:c.499G>C