<b>Background and Clinical Significance:</b> Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant disorder caused by pathogenic variants in the <i>SERPINA1</i> gene, resulting in reduced circulating alpha-1 antitrypsin (AAT) or production of dysfunctional protein. Here, SERPINA1 is linked to alpha 1-antitrypsin deficiency.