Search Variants in ClinGen Allele Registry


Type of search
Query

For example: 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

Bulk query

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.

Bulk Query

Create Login

Login is required to register new alleles and obtain their canonical identifiers.

Create Login

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.

Reset Password

Please contact us at bcm.clingen@gmail.com if you forgot your username.

What is ClinGen Allele Registry?

The allele registry provides and maintains identifiers for genetic variants.

Learn more

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?

API specifications

Allele registry supports querying/registration using well documented APIs.

Learn more


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.

Learn more

Contact Us

Please feel free to contact us at bcm.clingen@gmail.com for any questions or feedback.

Release notes

Based on users feedback the ClinGen Allele Registry is updated regularly.

Details