ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.46131981G>A
CA206462
COL6A2
c.2489G>A (p.Arg830Gln)
n.2566G>A
n.2573G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
21
g.46131981G=
CA2392512496
COL6A2
c.2489G= (p.Arg830=)
n.2566G=
n.2573G=
dbSNP
Number of alleles fetched
Previous
Next