LAN > ABCB6*01N.36
Allele Information
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Phenotypes
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.1118_1124delCGGATCG | p.Ala373Glyfs*47 | Exon 5 | chr2:220,080,755 | chr2:219,216,033 |
Sequence
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Publication
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