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

What is ClinGen Allele Registry?

The allele registry provides and maintains identifiers for genetic variants.

Learn more

API specifications

Allele registry supports querying/registration using well documented APIs.

Learn more

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.