Statements (7)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:aminoAcidChange |
Proline to Leucine at position 49
|
| https://www.w3.org/2000/01/rdf-schema#label |
p.P49L
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:notation |
HGVS:p.P49L
|
| gptkbp:bfsParent |
gptkb:Cystathionine_beta-synthase
|
| gptkbp:bfsLayer |
7
|