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by andy-thomason
2595 days ago
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How to represent variants is a whole can of worms. There are a number of competing systems. * RSIDs (from DBsnp https://www.ncbi.nlm.nih.gov/snp/)
* HGVS as mentioned.
* Ensembl chrom-pos-ref-alt (CPRA).
* Variant key (Nicola Asuni) As dasmoth says, there is no fixed coding sequence for a gene or location in the genome. |
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