ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.216073292C>T
CA262105
USH2A,USH2A-AS2
c.5581G>A (p.Gly1861Ser)
n.136+692C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.216073292C=
CA1144076036
USH2A,USH2A-AS2
c.5581G= (p.Gly1861=)
n.136+692C=
dbSNP
Number of alleles fetched
Previous
Next