Raph > RAPH*01N.01
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Phenotypes
MER2
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.382_383insG | p.Asp128Glyfs*13 | Exon 6 |
|
chr11:837,280 | chr11:837,280 |
|
Sequence
None
Publication
None