ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855223T>C
CA229664
PAH
c.619A>G (p.Asn207Asp)
c.604A>G (p.Asn202Asp)
n.715A>G
ClinVar
dbSNP
gnomAD v4
12
g.102855223T=
CA2059449395
PAH
c.619A= (p.Asn207=)
c.604A= (p.Asn202=)
n.715A=
dbSNP
Number of alleles fetched
Previous
Next