P1PK > A4GALT*01N.05
Allele Information
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Phenotypes
P1
Pk
NOR
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.418_428delinsTGGACCTGCTGGACCTGCTGGACCTGCTGGAACA | p.Gln140Trpfs*73 | Exon 3 |
|
chr22:43,089,540 | chr22:42,693,534 |
|
Sequence
None
Publication
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