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monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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TranscriptAnnotation hgvsc_id #111

Closed pnrobinson closed 4 months ago

pnrobinson commented 7 months ago

The field hgvsc_id in TranscriptAnnotation seems to have values such as 

'NM_001330437.2:c.836A>G'

This is not the id it is the actual HGVS cDNA notation. If this is meant to be used as an id, then we should not put the actual mutation into the id, it is confusing. I am assuming that the variable name is wrong and it should be changed to

hgvs_cdna (also use hgvs_protein)

ielis commented 6 months ago

Requirements

hgvsc_id field of the TranscriptAnnotation is renamed to hgvs_cdna.