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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:
PA2825145656
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1706375
ClinVar RCV Id:
RCV002284905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Arg174Gly
CA398751120
NM_000458.4:c.520A>G