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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:
PA2826006637
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
635703
ClinVar RCV Id:
RCV000787217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159395.1:p.Asn133Ser
CA398751597
NM_001165923.4:c.398A>G