P1PK > A4GALT*01N.11
Allele Information
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Phenotypes
P1
Pk
NOR
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.560G>A | p.Gly187Asp | Exon 3 | chr22:43,089,398 | chr22:42,693,392 |
Sequence
None
Publication
None