Vel > VEL*-01
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Phenotypes
Vel
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.64_80delAGCCTAGGGGCTGTGTC | p.Ser22Glnfs | Exon 3 |
|
chr1:3,692,001 | chr1:3,775,437 |
 |
Sequence
None
Publication
None