ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189581T>A
CA387462311
GJB2
c.1A>T (p.Met1Leu)
ClinVar
dbSNP
gnomAD v4
13
g.20189581T>C
CA198806
GJB2
c.1A>G (p.Met1Val)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next