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support for querying HGVSc alongside ensembl transcript IDs #70

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FelixMoelder opened this issue Nov 28, 2024 · 0 comments
Open

support for querying HGVSc alongside ensembl transcript IDs #70

FelixMoelder opened this issue Nov 28, 2024 · 0 comments

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@FelixMoelder
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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.

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