EKLF > KLF1*BGM16
Allele Information
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Phenotypes
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.304T>C | p.Ser102Pro | Exon 2 | chr19:12,996,740 | chr19:12,885,926 | |||
c.1002+2del | Intron 3 | chr19:12,995,784 | chr19:12,884,970 |
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Sequence
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