ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852926G>A
CA229721
PAH
c.731C>T (p.Pro244Leu)
c.716C>T (p.Pro239Leu)
n.490C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
12
g.102852926G=
CA2059446659
PAH
c.731C= (p.Pro244=)
c.716C= (p.Pro239=)
n.490C=
dbSNP
Number of alleles fetched
Previous
Next