Colton > CO*01N.03
Allele Information
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Phenotypes
Coa
Cob
Co3
Co4
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.576C>A | p.Asn192Lys | Exon 3 | chr7:30,962,205 | chr7:30,922,590 |
Sequence
None
Publication
None