ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189243A>C
CA342004
GJB2
c.339T>G (p.Ser113Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
13
g.20189243A=
CA2077139470
GJB2
c.339T= (p.Ser113=)
dbSNP
13
g.20189243A>T
CA387461355
GJB2
c.339T>A (p.Ser113Arg)
dbSNP
Number of alleles fetched
Previous
Next