RHAG > RHAG*01N.08
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Phenotypes
Duclos
Ola
DSLK
Kg
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.808G>A | p.Val270Ile | Exon 6 | chr6:49,580,247 | chr6:49,612,534 | |||
c.838G>A | p.Gly280Arg | Exon 6 | chr6:49,580,217 | chr6:49,612,504 |
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Sequence
None
Publication
None