ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.20643261C>A
CA366905438
ABCB5
c.392C>A (p.Thr131Asn)
dbSNP
7
g.20643261C>T
CA4176471
ABCB5
c.392C>T (p.Thr131Ile)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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