The allele registry services will be unavailable on from to for maintenance.
Search Variants in ClinGen Allele Registry
Select type of search to load examples.
Do not have transcript/HGVS expression?
For a substitution with gene symbol, position, reference and alternate alleles known, please use this service:
Gene and variation based query
Alternatively, please use this service to identify allele interactively if HGVS expression or transcript is not available.
Interactively generate variation
This option provides a search box for entering multiple HGVS expressions (one per line). For alleles present in the allele registry, the search returns canonical allele identifiers. For valid alleles not present in the allele registry, the search results provide a button to register an allele.
Login is required to register new alleles and obtain their canonical identifiers.
If you already have a login and forgot your password please reset your password. You will need your email address and username for the registry to reset password.
Please contact us at firstname.lastname@example.org if you forgot your username.
What is ClinGen Allele Registry?
The allele registry provides and maintains identifiers for genetic variants.
Other learning resources
Presentation by Erin Riggs that provides introduction and basic use cases of the ClinGen Allele Registry
Presentation by Prof. Aleks Milosavljevic at NHGRI-KOMP2 annual meeting
Presentation by Andrew Grant on How to map legacy variants to ClinGen Allele Registry identifers?
Allele registry supports querying/registration using well documented APIs.
Try beta release of OpenAPI 2.0 compatible ClinGen Allele registry REST-API documentation.
How to cite ClinGen Allele Registry?
ClinGen Allele Registry links information about genetic variants.
Hum Mutat. 2018 (11):1690-1701. doi:10.1002/humu.23637
Reference sequence accessions for chromosomes
Mapping of human chromosomes to reference sequence accession.
Allele registry supports GA4GH refget and VR standards
Please feel free to contact us at email@example.com for any questions or feedback.
Based on users feedback the ClinGen Allele Registry is updated regularly.