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rs794728001

From SNPedia

ClinVar
Risk rs794728001(;)
Alt rs794728001(;)
Reference rs794728001(CTGT;CTGT)
Significance Pathogenic
Disease Transcobalamin II deficiency
Variation info
Gene TCN2
CLNDBN Transcobalamin II deficiency
Reversed 0
HGVS NC_000022.10:g.31011761_31011764delTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000116.3,