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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:
PA2826006564
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36840
ClinVar RCV Id:
RCV000030521
RCV000787252
RCV000730643
RCV002490424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159395.1:p.Pro47Leu
CA214348
NM_001165923.4:c.140C>T