NM_000196.4:c.799A>G

HGVS Expressions

  • NG_016549.1:g.10251A>G
  • NM_000196.4:c.799A>G
  • NP_000187.3:p.Thr267Ala
  • NC_000016.10:g.67436383A>G
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

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