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 spreadsheet, please contact us for more information at s.perkins@ucl.ac.uk .
Part 1: Mutation Information
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Part 2: Patient Information
Part 3: Reference Information
Part 4: Submitter's Contact Information