ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71223852T>C
CA341595
GJB1
c.145T>C (p.Ser49Pro)
ClinVar
dbSNP
X
g.71223852T=
CA2436388180
GJB1
c.145T= (p.Ser49=)
dbSNP
Number of alleles fetched
Previous
Next