ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.215878891G>T
CA262120
USH2A
c.8431C>A (p.Pro2811Thr)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.215878891G>A
CA344831089
USH2A
c.8431C>T (p.Pro2811Ser)
dbSNP
gnomAD v3
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
Previous
Next