ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20223362G>A
CA6904506
GJB6
c.119C>T (p.Ala40Val)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
13
g.20223362G=
CA2077160421
GJB6
c.119C= (p.Ala40=)
dbSNP
Number of alleles fetched
Previous
Next