ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.31592944G>A
CA256849
TTR
c.118G>A (p.Val40Ile)
c.22G>A (p.Val8Ile)
n.144G>A
ClinVar
dbSNP
gnomAD v3
gnomAD v4
18
g.31592944G>C
CA402156630
TTR
c.118G>C (p.Val40Leu)
c.22G>C (p.Val8Leu)
n.144G>C
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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