Gene

TTR

Coding Change (c.)

c.233T>A

Protein Change (p.)

p.Leu78His

ClinVar Name

NM_000371.4(TTR):c.233T>A (p.Leu78His)

ClinVar Number

13420

Variant Forum

https://www.facebook.com/groups/150410138391756

Other Names

L58H, L78H, p.L78H:CTC>CAC