ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.216246592A>C
CA270152
USH2A
c.2802T>G (p.Cys934Trp)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.216246592A>T
CA344864006
USH2A
c.2802T>A (p.Cys934Ter)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next