P1PK > A4GALT*02N.03
Allele Information
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Phenotypes
P1
Pk
NOR
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.752C>T | p.Pro251Leu | Exon 3 | chr22:43,089,206 | chr22:42,693,200 |
Sequence
None
Publication
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