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Search Results: 1 unique variant retrieved.


Variant No. 260
p.(Ala393Val) Legacy AA No. 375
Variant Type:
Point
Genomic:
23171C>T
Domain:
Serine Protease
Codon Change:
GCG > GTG
Variant Effect:
Missense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show