Colton > CO*01N.05
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.112C>T | p.Pro38Ser | Exon 1 | chr7:30,951,636 | chr7:30,912,021 |
Sequence
None
Publication
None