ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45989779G>A
CA10604839
COL6A1
c.930+1G>A (n.930+1G>A)
ClinVar
dbSNP
21
g.45989779G>T
CA410522380
COL6A1
c.930+1G>T (n.930+1G>T)
ClinVar
dbSNP
Number of alleles fetched
Previous
Next