Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1145T>C
p.Val382Ala (Legacy AA No. 342)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
T>C
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-