SERPINA1

serpin family A member 1
OMIM: 107400
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-1 Antitrypsin Deficiency, Neonatal and Adult Cholestasis
R-numbers: R190
Signed-off version 2.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Emphysema due to AAT deficiency, Emphysema-cirrhosis, due to AAT deficiency, Emphysema/cirrhosis due to AAT deficiency, 613490