Preferred Label : HBA2 NM_000517.6:c.427T C;
NCIt synonyms : Alpha-2 Globin c.427T C; NM_000517.6:c.427T C; HBA c.427T C; Hemoglobin Subunit Alpha 2 c.427T C;
NCIt definition : A nucleotide substitution at position 427 of the coding sequence of the HBA2 gene
where thymine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1773714;
SNP ID : rs41464951;
Origin ID : C185540;
UMLS CUI : C5669983;
Semantic type(s)
molecular_abnormality_involves_gene