Sickle Cell Disease Ontology Project

HBB, GLU26LYS

http://scdontology.h3abionet.org/ontology/SCDO_1000042

A mutation in the HBB gene causing substitution of glutamic acid for lysine at the 26th position of the beta-globin chain.

Term info

curator note

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dc:creator

SCDO (Jade Hotchkiss)

definition source

http://www.orpha.net/data/patho/GB/uk-HbE.pdf, https://www.omim.org/entry/141900#0071

HbE Mutation, Beta E Mutation