How to retrieve amino acid change for a variant in ClinVar (e.g. Arg519Trp)

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!

clinvar database

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written 6.3 years ago by magnolia •

annotate the vcf with vep or snpeff

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written 6.3 years ago by Pierre Lindenbaum

Thank you for the reply. I did annotate it with VEP but still no luck. I don't know which options I should give. Any ideas?

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written 6.3 years ago by magnolia •

0 answers

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