ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
MT
m.4248T>A
CA913177503
MT-ND1
c.942T>A (p.Ile314=)
dbSNP
MT
m.4248T>C
CA337096830
MT-ND1
c.942T>C (p.Ile314=)
ClinVar
dbSNP
Number of alleles fetched
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