ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.31595230T>G
CA256802
TTR
c.311T>G (p.Ile104Ser)
c.215T>G (p.Ile72Ser)
n.337T>G
ClinVar
dbSNP
18
g.31595230T>C
CA402157111
TTR
c.311T>C (p.Ile104Thr)
c.215T>C (p.Ile72Thr)
n.337T>C
ClinVar
dbSNP
Number of alleles fetched
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