Latest Release (opens new window)

These pages describe ELLA's annotation service, which is required by ELLA to import variants and analyses. For documentation about the ELLA application itself, see (opens new window).


  • Annotates variants with prediction, population frequencies and external mutation databases (VEP, gnomAD and ClinVar by default).
  • Converts manual import data, with support for HGVS, VCF and SeqPilot formats.
  • Extracts PubMed IDs from ClinVar and (optional) HGMD data.

# Contents

# Support

For support and requests, contact ella-support.

Last Updated: 2/27/2024, 8:46:03 AM