ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45990284G>A
CA512713111
COL6A1
c.957G>A (p.Lys319=)
ClinVar
dbSNP
21
g.45990284G>T
CA16608092
COL6A1
c.957G>T (p.Lys319Asn)
ClinVar
dbSNP
Number of alleles fetched
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