C.388G>003eC,VAL130LEU,RS104893830
Allele Registry ID：CA020325
ClinVar ID：2229

Ref. Build: GRCh37   Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
3	10188245	10188245	G	C
Transcript
ENST00000256474.2

NM_000551.3:c.388G>003eC
NP_000542.1:p.Val130Leu
NC_000003.11:g.10188245G>003eC
ENST00000256474.2:c.388G>003eC