P1PK > A4GALT*01N.14
Allele Information
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Phenotypes
P1
Pk
NOR
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.732dupG | p.Ile245Aspfs*38 | Exon 3 |
|
chr22:43,089,226 | chr22:42,693,220 |
|
Sequence
None
Publication
None