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Detailed info
Owner:
admin
Position:
exon 5
HAEUID:
147
Nucleotide change
Protein change
Traditional:
8456_8458delAAG
Traditional:
Lys251del
HUGO:
g.9638_9640del
HUGO:
p.Lys273del
CDS:
c.817_819del
Effect:
pathogenic
Reference:
Parad et al (Proc Natl Acad Sci U S A. 1990 Sep;87(17):6786-90)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)