Entering edit mode
4.0 years ago
magnolia
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20
Hi,
ClinVar has amino acid change (e.g. Arg519Trp) in their web server but not in VCF. How can I get that?
For example in this page there is NM_001128425.1(MUTYH):c.1555C>T (p.Arg519Trp): https://www.ncbi.nlm.nih.gov/clinvar/variation/187354/
Thanks!