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: PA2825145365

Gene: HNF4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2581500

ClinVar RCV Id: RCV003331905

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000448.3:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle	CA2582342725 NM_000457.6:c.751_752insCCCTCGGCACTGCCCACATTG