ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.138091822C>T
CA117467
AKR1D1
c.316C>T (p.Leu106Phe)
c.148C>T (p.Leu50Phe)
n.226C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
7
g.138091822C=
CA1746468631
AKR1D1
c.316C= (p.Leu106=)
c.148C= (p.Leu50=)
n.226C=
dbSNP
Number of alleles fetched
Previous
Next