Gene: TTR
Coding Change (c.): c.130C>T
Protein Change (p.): p.Pro44Ser
ClinVar Name: NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
ClinVar Number: 181693
Variant Forum: Facebook Amyloidosis ATTRv (hATTR)-Hereditary-FAP-FAC