GATA1 > GATA1*BGM01
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Phenotypes
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.1240T>C | Exon 6 | chrX:48,652,569 | chrX:48,794,162 |
|
Sequence
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