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Search Results: 1 unique variant retrieved.


Variant No. 203
p.(Ser313Ile) Legacy AA No. 295
Variant Type:
Point
Genomic:
19332G>T
Domain:
Apple 4
Codon Change:
AGT > ATT
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show