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  Search Results: 1 unique variant retrieved.



  c.319C>T
p.(Leu107Phe) (Legacy AA No.88)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > TTT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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