C.548C>003eA,S183X,SER183TER,RS5030823
Allele Registry ID：CA020473
ClinVar ID：2215

Ref. Build: GRCh37   Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
3	10191555	10191555	C	A
Transcript
ENST00000

NM_000551.3:c.548C>003eA
NP_000542.1:p.Ser183Ter
NC_000003.11:g.10191555C>003eA
ENST00000256474.2:c.548C>003eA