ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855171A>G
CA229682
PAH
c.671T>C (p.Ile224Thr)
c.656T>C (p.Ile219Thr)
n.767T>C
ClinVar
dbSNP
gnomAD v4
12
g.102855171A=
CA2059449214
PAH
c.671T= (p.Ile224=)
c.656T= (p.Ile219=)
n.767T=
dbSNP
Number of alleles fetched
Previous
Next