ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.222297048G>A
CA116691
PAX3
c.251C>T (p.Ser84Phe)
n.632C>T
c.395C>T (p.Ser132Phe)
ClinVar
dbSNP
2
g.222297048G=
CA1330546510
PAX3
c.251C= (p.Ser84=)
n.632C=
c.395C= (p.Ser132=)
dbSNP
Number of alleles fetched
Previous
Next