I have a long list of gene variations. For example, Here are 4 of them:
The first term identifies the gene, the second identifies the variation.
I am a data scientist with no background in biology or medicine. I am looking for an online resource where I could download synonyms, descriptive data, and other relevant info for all the gene variants.
While CBL Q249E is documented at the ckb.jax site but not the reactome site. Other variants are documented at reactome but not ckb.jax, etc.
Plus, there appears to be no easily downloadable file containing this data. Before I go scraping what I need off of a hodgepodge of websites, I wanted to check with you smart people to see if there is a user-freindly resource out there that has this data in a downloadable format.