P1PK > A4GALT*02N.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.972_997del | p.Arg325Alafs*113 | Exon 3 |
|
chr22:43,088,986 | chr22:42,692,980 |
 |
Sequence
None
Publication
None