ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.99762695G>T
CA248429
COL8A1
c.-4+17674G>T (n.-4+17674G>T)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
3
g.99762695G=
CA1387973505
COL8A1
c.-4+17674G= (n.-4+17674G=)
dbSNP
Number of alleles fetched
Previous
Next