ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.631617T>C
CA2467792772
c.277+443T>C (n.277+443T>C)
dbSNP
X
g.631617T>C
CA15039463
SHOX
c.277+443T>C (n.277+443T>C)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
Number of alleles fetched
Previous
Next