I > GCNT2*02N.01
Allele Information
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Phenotypes
I
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.816G>C | Exon 1 | chr6:10,587,038 | chr6:10,586,805 |
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c.1006G>A | p.Gly336Arg | Exon 2 | chr6:10,621,664 | chr6:10,621,431 |
Sequence
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Publication
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