ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71224221C>G
CA413502905
GJB1
c.514C>G (p.Pro172Ala)
ClinVar
dbSNP
X
g.71224221C>T
CA255232
GJB1
c.514C>T (p.Pro172Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
Number of alleles fetched
Previous
Next