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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45989094G>A
CA16621025
COL6A1
c.815G>A (p.Gly272Asp)
ClinVar
dbSNP
21
g.45989094G=
CA2392433324
COL6A1
c.815G= (p.Gly272=)
dbSNP
Number of alleles fetched
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