NM_025139.6:c.1027C>T

HGVS Expressions

  • NM_025139.6:c.1027C>T
  • NP_079415.4:p.Arg343Cys
  • NC_000002.12:g.231262306C>T
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

427932

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