GLY596CYS,RS121913361
Allele Registry ID：CA135098
ClinVar ID：44814

Ref. Build: GRCh37   Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
7	140453149	140453149	C	A
Transcript
ENST00000288602.6

NM_004333.4:c.1786G>003eT
NP_004324.2:p.Gly596Cys
NC_000007.13:g.140453149C>003eA
ENST00000288602.6:c.1786G>003eT