ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.49954168C>T
CA127480
AQP2,AQP5-AS1
c.374C>T (p.Thr125Met)
n.437G>A
n.118-2080G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
12
g.49954168C=
CA2035394172
AQP2,AQP5-AS1
c.374C= (p.Thr125=)
n.437G=
n.118-2080G=
dbSNP
Number of alleles fetched
Previous
Next