K172X,LYS172TER
Allele Registry ID：CA346730730
ClinVar ID：

Ref. Build: GRCh37   Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
2	47637380	47637380	A	T
Transcript
ENST00000233146.2

ENST00000233146.2:c.514A>003eT
NC_000002.11:g.47637380A>003eT