ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71224254C>A
CA413503107
GJB1
c.547C>A (p.Arg183Ser)
ClinVar
dbSNP
gnomAD v4
X
g.71224254C>T
CA336920
GJB1
c.547C>T (p.Arg183Cys)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next