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  Search Results: 1 unique variant retrieved.



  c.1169T>C
p.(Ile390Thr) (Legacy AA No.371)
Variant Type:
Point
Domain:
a1
Sequence Context:
ATT > ACT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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