E384X,GLU384TER
Allele Registry ID：CA338219584
ClinVar ID：

Ref. Build: GRCh37   Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
1	8073509	8073509	C	A
Transcript
ENST00000377482.5

NC_000001.10:g.8073509C>003eA