P1PK > A4GALT*01N.09.02
Allele Information
X
X
Edit Public Comment
Last Edited By
Date Of Last Edit
Private Comments
User
Date
Edit
Delete
Add A Private Comment:
Edit Private Comment:
Confirm Deletion Of Comment:
Phenotypes
P1
Pk
NOR
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.548T>A | p.Met183Lys | Exon 3 |
|
chr22:43,089,410 | chr22:42,693,404 |
 |
|
| c.987G>A | Exon 3 |
|
chr22:43,088,971 | chr22:42,692,965 |
|
Sequence
None
Publication
None