Closed cbizon closed 7 years ago
So the information that is in the VCI json is this attribute in the interpretation: "clinvarVariantTitle": "NM_000257.3(MYH7):c.1207C>T (p.Arg403Trp)"
I'm not sure what shows up if the interpretation is not in clinvar.
This information is also in the result from the allele registry, in the section that deals with external identifiers. I had some errors in the way I was transforming that section, it turns out, but now I think I have it working. Our canonical allele has a relatedIdentifers section, and if the allele has a clinvar identifier, it will now include an element like this:
"relatedIdentifier": [
{
"code": 14102,
"display": "NM_000257.3(MYH7):c.1207C>T (p.Arg403Trp)",
"system": "http://www.ncbi.nlm.nih.gov/clinvar/variation/",
"type": "Coding"
},
{
"code": 3218714,
"system": "http://www.ncbi.nlm.nih.gov/snp/",
"type": "Coding"
}
],
So you can go to relatedIdentifier, find the one for the clinvar system, and get the display field.
When a person works on an allele in the VCI, they choose a CAID or a ClinVar ID. The VCI chooses a transcript HGVS to be the main representation of the allele, shown at the top of the page. We want to pass this special name through our model so that it can be attached to the ClinVar submission form as a way for the user to recognize the submission.