Search
Enter text into the search box in the top right hand corner and press enter or click Go.
This searches on the default build in your user settings.
If there is only one result, it automatically jumps to that page, otherwise it displays the results.
Click on the Go button without entering anything in the search box to visit the search page, where you can select which genome builds to search on.
Example inputs:
| Name | Example |
|---|---|
| Locus | chr1:169519049 |
| Variant | "1:169519049 T>C" or "1-169519049-T-C" |
| Variant (id) | v1001 |
| ClinGenAllele | CA285410130 |
| dbSNP ID | rs6025 |
| HGVS | "NM_001080463.1:c.5972T>A", "NM_000492.3(CFTR):c.1438G>T", "NC_000007:g.117199563G>T" |
| Gene | GATA2, ENSG00000179348 |
| Transcript | NM_001080463, NM_001080463.2 |
| Classification | The Lab Record ID of the record vc1545 |
| Sample | hiseq_sample_2 (case insensitive search match in name) |
| Patient | "Last, First" or "First" or "Last" |
| Flowcell | 160513_NB501009_0029_AH3FFJBGXY |
For HGVS, if no transcript version is provided, the most recent is used.