P1PK > A4GALT*01N.20
Allele Information
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Phenotypes
P1
Pk
NOR
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.1029dupC | p.Thr344Hisfs*103 | Exon 3 |
|
chr22:43,088,929 | chr22:42,692,923 |
 |
Sequence
None
Publication
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