VEP with HGVS notation
A variant has been identified in a patient presenting with a genetic disorder. We’d like to determine if it is causing the phenotype. The variant is in HGVS notation:
What are the protein HGVS notation(s) for the RefSeq protein(s) affected? (RefSeq identiﬁers begin
21:g.25606478T>C into the Paste data field. Under Transcript database to use, select RefSeq transcripts. Under Identifiers, select HGVS.
There are many HGVS notations listed, two of which include RefSeq protein identifiers: