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  Search Results: 1 unique variant retrieved.



  c.6172G>C
p.(Ala2058Pro) (Legacy AA No.2039)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCT > CCT
Variant Effect:
Missense
Location:
Exon 20
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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