ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.31529370G>C
CA340083
SRD5A2
c.635C>G (p.Pro212Arg)
c.413C>G (p.Pro138Arg)
c.380C>G (p.Pro127Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
2
g.31529370G=
CA1242197393
SRD5A2
c.635C= (p.Pro212=)
c.413C= (p.Pro138=)
c.380C= (p.Pro127=)
dbSNP
Number of alleles fetched
Previous
Next