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  Search Results: 1 unique variant retrieved.



  c.6452C>T
p.(Ser2151Leu) (Legacy AA No.2132)
Variant Type:
Point
Domain:
C1
Sequence Context:
TCA > TTA
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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