All transcript variants in gene ABCA3

Information The variants shown are described using the NM_001089.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.127C>T r.(?) p.(Arg43Cys) g.2376203G>A Copied from the Exome Variant Server ABCA3_000414 1/12996 1/8600 0/4396
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