ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.31072968C>A
CA485835503
AP4S1
c.289C>A (p.Arg97=)
c.190C>A (p.Arg64=)
dbSNP
gnomAD v2
gnomAD v4
14
g.31072968C>T
CA7144219
AP4S1
c.289C>T (p.Arg97Ter)
c.190C>T (p.Arg64Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
Previous
Next