ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852857T>A
CA354145
PAH
c.800A>T (p.Gln267Leu)
c.785A>T (p.Gln262Leu)
n.559A>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
12
g.102852857T>C
CA16020862
PAH
c.800A>G (p.Gln267Arg)
c.785A>G (p.Gln262Arg)
n.559A>G
ClinVar
dbSNP
Number of alleles fetched
Previous
Next