Augustine > AUG*01N
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Phenotypes
Aug1
Ata
ATML
ATAM
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.589+1G>C | Intron 6 |
|
chr6:44,198,219 | chr6:44,230,482 |
|
Sequence
None
Publication
None