ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45998399G>A
CA410530203
COL6A1
n.352G>A
c.1577G>A (p.Gly526Glu)
dbSNP
gnomAD v2
gnomAD v4
21
g.45998399G>T
CA257732
COL6A1
n.352G>T
c.1577G>T (p.Gly526Val)
ClinVar
dbSNP
Number of alleles fetched
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