ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.56565389C>A
CA259707
UBQLN2
c.1516C>A (p.Pro506Thr)
c.273+1649C>A (n.273+1649C>A)
ClinVar
dbSNP
X
g.56565389C>T
CA413380724
UBQLN2
c.1516C>T (p.Pro506Ser)
c.273+1649C>T (n.273+1649C>T)
ClinVar
dbSNP
gnomAD v2
Number of alleles fetched
Previous
Next