ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.219418809A>G
CA217067
DES
c.347A>G (p.Asn116Ser)
ClinVar
dbSNP
2
g.219418809A>T
CA10576588
DES
c.347A>T (p.Asn116Ile)
ClinVar
dbSNP
Number of alleles fetched
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