Allele Registry

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.

Canonical Allele Identifier: PA916019655

Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 594349

ClinVar RCV Id: RCV000729612 RCV002464301

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291215.1:p.Gly144Ser	CA8519075 NM_001304286.2:c.430G>A