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: PA111399

Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 635698

ClinVar RCV Id: RCV001281300 RCV001785725 RCV001328307 RCV002501024

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000449.1:p.Ser148Leu	CA398751429 NM_000458.4:c.443C>T