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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:
PA913193082
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
635700
ClinVar RCV Id:
RCV000787213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Leu145Gln
CA398751468
NM_000458.4:c.434T>A