cancervariants / cancervariants/variation-normalization
Add support for HGVS silent mutations where reference nucleotide is given
Open
enhancement
priority:low
requirement
- Dominant language
- Python
- Stars
- 15
- Forks
- 2
- PR merge metrics
- No merged PRs in 30d
Description
We currently support silent mutation queries such as `NM_004333.4:c.1799=`, but `NM_004333.4:c.1799T=` returns a Text Variation.
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