Mutation Submission


According to the HGVS nomenclature, mutation representations of Human F9 follow NCBI's NM_000133.3 (mRNA) and NP_000124 (Protein) as the reference sequences. In case you have used a different sequence, please mention which one in the above sequence reference text box.

The numbering generally should follow the HGVS format where in the A of the ATG of the methionine is +1. If you have followed a different numbering (for eg., first residue of Gla numbered as +1 leaving out the Signal Peptide, then please indicate it in the above Sequence numbering text box.

If you have a considerable number of variants to submit and would like to submit a spreasheet, please contact us for more information at pavithra.rallapalli.10@ucl.ac.uk .

Part 1: Mutation Information



Part 2: Patient Information



Part 3: Reference Information



Part 4: Submitter's Contact Information


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