ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189406C>A
CA387461699
GJB2
c.176G>T (p.Gly59Val)
ClinVar
dbSNP
13
g.20189406C>T
CA273153
GJB2
c.176G>A (p.Gly59Asp)
ClinVar
dbSNP
13
g.20189406C>G
CA127026
GJB2
c.176G>C (p.Gly59Ala)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next