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  Search Results: 1 unique variant retrieved.



  c.5247C>G
p.(Phe1749Leu) (Legacy AA No.1730)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTC > TTG
Variant Effect:
Missense
Location:
Exon 15
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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