ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189424C>A
CA387461760
GJB2
c.158G>T (p.Cys53Phe)
ClinVar
dbSNP
13
g.20189424C>T
CA172215
GJB2
c.158G>A (p.Cys53Tyr)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next