NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp)
24014 individuals in gnomad set
the subject molecular phosphorylates the object molecule
A contiguous change at a Location
abnormal circulating bilirubin level
the class 'brain' from the Uberon anatomy ontology
Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos syndrome, vascular type
4 individuals in gnomad set
An entity that describes a sin ...... e that matches that definition
abnormal brain ventricle size
CLINVAR representation of NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His)
Ehlers-Danlos syndrome, vascular type
chr13:g.32921033G>C (hg19) in ClinGen
abnormal brain ventricle size
NM_000059.3(BRCA2):c.7007G>C (p.Arg2336Pro)
An activity is something that ...... using, or generating entities.
Activity or behavior of any in ...... mechanical actor in the world
person, group, organization or ...... (i.e. a knowledge association)
A subcellular location, cell type or gross anatomical part
A relationship between two ana ...... se nature of the relationship.
A relationship between two ana ...... s, tissues and whole organisms
Biolink Model root class for entity annotations.