别名

ARG687GLYFS,RS863225381
Allele Registry ID:CA279809
ClinVar ID:218022

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
33709046437090464C
Transcript
ENST00000231790.2

基因序列

NM_000249.3:c.2059delC
NP_000240.1:p.Arg687Glyfs
ENST00000231790.2:c.2059delC
NC_000003.11:g.37090464del