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Search Results: 1 unique variant retrieved.


Variant No. 130
p.(Leu190Pro) Legacy AA No. 172
Variant Type:
Point
Genomic:
14907T>C
Domain:
Apple 2
Codon Change:
CTG > CCG
Variant Effect:
Missense
Location:
Exon (6)
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show