P1PK > A4GALT*02N.07
Allele Information
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Phenotypes
P1
Pk
NOR
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.367T>C | p.Ser123Pro | Exon 3 | chr22:43,089,591 | chr22:42,693,585 | |||
c.547_548delAT | p.Met183Valfs*99 | Exon 3 | chr22:43,089,411 | chr22:42,693,405 |
Sequence
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