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Search Results: 1 unique variant retrieved.


Variant No. 176
p.(Glu261Asp) Legacy AA No. 243
Variant Type:
Point
Genomic:
19076G>C
Domain:
Apple 3
Codon Change:
GAG > GAC
Variant Effect:
Missense
Location:
Exon (8)
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show