Gene

TTR

Coding Change (c.)

c.379A>G

Protein Change (p.)

p.Ile127Val

ClinVar Name

NM_000371.4(TTR):c.379A>G (p.Ile127Val)

ClinVar Number

13450

Variant Forum

https://arci.org/about-amyloidosis/hereditary-attr-amyloidosis/

Other Names

p.I127v