ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
MT
m.8993T>G
CA250380
MT-ATP6
c.467T>G (p.Leu156Arg)
ClinVar
dbSNP
MT
m.8993T>C
CA120596
MT-ATP6
c.467T>C (p.Leu156Pro)
ClinVar
dbSNP
Showing alleles 1 - 2 from query results
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