ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.68839729A>C
CA413438025
EFNB1
c.472A>C (p.Met158Leu)
dbSNP
X
g.68839729A>G
CA121636
EFNB1
c.472A>G (p.Met158Val)
ClinVar
dbSNP
Number of alleles fetched
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