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Input Variant Description

Enter variant description in HGVS format or in VCF format (into the NavBar form) which can be demonstrated by clicking one of the links below:
Additional transcript selection options
  • mane_select = MANE Select transcripts only
  • mane = MANE Select and MANE Plus Clinical transcripts
  • select = All select transcripts (MANE, RefSeq)
  • refseq_select = RefSeq Select transcripts only