Augustine > AUG*02
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Phenotypes
Aug1
Ata
ATML
ATAM
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.1171G>A | p.Glu391Lys | Exon 12 |
|
chr6:44,200,655 | chr6:44,232,918 |
 |
Sequence
None
Publication
None