ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.42469523C>T
CA339960
PRICKLE1
c.311G>A (p.Arg104Gln)
n.138G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.42469523C=
CA2031939884
PRICKLE1
c.311G= (p.Arg104=)
n.138G=
dbSNP
Number of alleles fetched
Previous
Next