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When using ProVar for querying variants we noticed that it is not support to search for variants by providing a ensembl transcript ID and a HGVSc value. Instead we are advised to provide a RefSeq ID alongside the HGVSc entry.
As VEP performs HGVSc annotation by returning a ensembl transcript ID together with the HGVSc entry it would be helpful if this combination could also be used for querying ProtVar.
The text was updated successfully, but these errors were encountered:
When using ProVar for querying variants we noticed that it is not support to search for variants by providing a ensembl transcript ID and a HGVSc value. Instead we are advised to provide a RefSeq ID alongside the HGVSc entry.
As VEP performs HGVSc annotation by returning a ensembl transcript ID together with the HGVSc entry it would be helpful if this combination could also be used for querying ProtVar.
The text was updated successfully, but these errors were encountered: