C186713Level 6
HBB NM_000518.4:c.364G>C
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A nucleotide substitution at position 364 of the coding sequence of the HBB gene where guanine has been mutated to cytosine.
**Synonyms:** - Beta-Globin c.364G>C - HBB c.364G>C - Hemoglobin Beta c.364G>C - NM_000518.4:c.364G>C
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