EKLF > KLF1*BGM19
Allele Information
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Phenotypes
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.1040C>A | p.Ala347Asp | Exon 3 |
|
chr19:12,995,748 | chr19:12,884,934 |
|
|
| c.1045delT | Exon 3 |
|
chr19:12,995,743 | chr19:12,884,929 |
|
Sequence
None
Publication
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