ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852824del
CA267677
PAH
c.837del (p.Glu280AsnfsTer?)
c.822del (p.Glu275AsnfsTer?)
n.596del
ClinVar
dbSNP
12
g.102852824dup
CA2580085691
PAH
c.837dup (p.Glu280ArgfsTer3)
c.822dup (p.Glu275ArgfsTer3)
n.596dup
ClinVar
dbSNP
Number of alleles fetched
Previous
Next