Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1782C>A
p.Ser594Arg (Legacy AA No. 576)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
C>A
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-