ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20188984C>T
CA357244
GJB2
c.598G>A (p.Gly200Arg)
ClinVar
dbSNP
13
g.20188984C>A
CA274205
GJB2
c.598G>T (p.Gly200Ter)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
Previous
Next