ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
MT
m.6489C>G
CA337097425
MT-CO1
c.586C>G (p.Leu196Val)
dbSNP
MT
m.6489C>A
CA120614
MT-CO1
c.586C>A (p.Leu196Ile)
ClinVar
dbSNP
Number of alleles fetched
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