JR > ABCG2*01N.15
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Phenotypes
Jra
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.420_421insA | p.Gln141Thrfs*16 | Exon 5 |
|
chr4:89,052,324 | chr4:88,131,172 |
|
Sequence
None
Publication
None