ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5248418C>T
CA124580
HBG1,HBG2
c.385G>A (p.Ala129Thr)
c.448G>A (p.Ala150Thr)
n.1316G>A
ClinVar
dbSNP
gnomAD v4
COSMIC
11
g.5248418C>A
CA379278997
HBG1,HBG2
c.385G>T (p.Ala129Ser)
c.448G>T (p.Ala150Ser)
n.1316G>T
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next