ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.83319501G>A
CA2989148
HPSE
c.374-32C>T (n.374-32C>T)
n.393-32C>T
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
4
g.83319501G>C
CA1472738785
HPSE
c.374-32C>G (n.374-32C>G)
n.393-32C>G
dbSNP
Number of alleles fetched
Previous
Next