ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.44116162C>T
CA129222
JPH2
c.1513G>A (p.Gly505Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
20
g.44116162C>G
CA9868667
JPH2
c.1513G>C (p.Gly505Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
Previous
Next