ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102851755C>T
CA229817
PAH
c.844G>A (p.Asp282Asn)
c.829G>A (p.Asp277Asn)
n.603G>A
n.506G>A
c.5G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
12
g.102851755C=
CA2059444709
PAH
c.844G= (p.Asp282=)
c.829G= (p.Asp277=)
n.603G=
n.506G=
c.5G=
dbSNP
Number of alleles fetched
Previous
Next