C172939Level 6
HBB NM_000518.5:c.19G>A
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A nucleotide substitution at position 19 of the coding sequence of the HBB gene where guanine has been mutated to adenine.
**Synonyms:** - Beta-Globin c.19G>A - HBB c.19G>A - Hemoglobin Beta c.19G>A - NM_000518.5:c.19G>A
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