Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA645445472

Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 322943

ClinVar RCV Id: RCV000343034 RCV000445437 RCV001613036

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291215.1:p.Phe443Leu	CA8518750 NM_001304286.2:c.1329T>G CA398750135 NM_001304286.2:c.1329T>A CA398750140 NM_001304286.2:c.1327T>C