ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.41178373C>A
CA250542
EP300
c.6662C>A (p.Pro2221Gln)
c.6584C>A (p.Pro2195Gln)
ClinVar
dbSNP
COSMIC
22
g.41178373C>T
CA10253914
EP300
c.6662C>T (p.Pro2221Leu)
c.6584C>T (p.Pro2195Leu)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
Previous
Next