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Links from Gene

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126859857, SLC22A1
(G253R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126859857, SLC22A1
(T235M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC22A1
(R175C)
Single nucleotide variant
(missense variant)
Aganglionic megacolon
GUncertain significance
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