ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.31580756C>T
CA116154
SRD5A2
c.145G>A (p.Ala49Thr)
c.27-46990G>A (n.27-46990G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.31580756C=
CA1242221098
SRD5A2
c.145G= (p.Ala49=)
c.27-46990G= (n.27-46990G=)
dbSNP
Number of alleles fetched
Previous
Next