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Detailed info
Owner:
admin
Position:
exon 5
HAEUID:
85
Nucleotide change
Protein change
Traditional:
8457_8459delAGA
Traditional:
Lys251del
HUGO:
g.9639_9641del
HUGO:
p.Lys273fs
CDS:
c.818_820del
Effect:
pathogenic
Reference:
Bissler JJ et al (Proc Natl Acad Sci U S A. 1994 Sep 27;91(20):9622-5.)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)