ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855328G>A
CA229600
PAH
c.514C>T (p.Gln172Ter)
c.499C>T (p.Gln167Ter)
n.610C>T
n.535C>T
ClinVar
dbSNP
gnomAD v4
12
g.102855328G=
CA2059449889
PAH
c.514C= (p.Gln172=)
c.499C= (p.Gln167=)
n.610C=
n.535C=
dbSNP
Number of alleles fetched
Previous
Next