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: PA916019656

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_001291215.1:p.Leu145Gln	CA398751468 NM_001304286.2:c.434T>A