ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.134750857C>T
CA320547
COL5A1
c.1637C>T (p.Ala546Val)
n.2039C>T
n.2035C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
9
g.134750857C=
CA1883345849
COL5A1
c.1637C= (p.Ala546=)
n.2039C=
n.2035C=
dbSNP
Number of alleles fetched
Previous
Next