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monarch-initiative / gpsea

A Python library for discovery of genotype-phenotype associations
https://monarch-initiative.github.io/gpsea/stable
MIT License
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Help user to retieve the clinical transcript #134

Open pnrobinson opened 7 months ago

pnrobinson commented 7 months ago

Via this API https://www.genenames.org/help/rest/ we can get mane transcripts

For instance, here we can see the MANE select for FBN1 https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3603

pnrobinson commented 2 months ago

I think we should write documentation about how to get the MANE transcript. This is. feature we could add for version two of the software but on hindsight it is not high priority for the first release.