ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189450C>T
CA172211
GJB2
c.132G>A (p.Trp44Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
13
g.20189450C>G
CA257679
GJB2
c.132G>C (p.Trp44Cys)
ClinVar
dbSNP
13
g.20189450C=
CA2077140259
GJB2
c.132G= (p.Trp44=)
dbSNP
Number of alleles fetched
Previous
Next