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ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.48524009G>A
CA255900
EBP
c.238G>A (p.Glu80Lys)
n.196G>A
n.359G>A
ClinVar
dbSNP
X
g.48524009G=
CA2428297244
EBP
c.238G= (p.Glu80=)
n.196G=
n.359G=
dbSNP
Number of alleles fetched
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