C185540Level 6
HBA2 NM_000517.6:c.427T>C
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A nucleotide substitution at position 427 of the coding sequence of the HBA2 gene where thymine has been mutated to cytosine.
**Synonyms:** - Alpha-2 Globin c.427T>C - HBA c.427T>C - Hemoglobin Subunit Alpha 2 c.427T>C - NM_000517.6:c.427T>C
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No cross-system equivalences mapped for this node.