NM_000402.4:c.563G>A

HGVS Expressions

  • NG_009015.2:g.17393G>A
  • NM_000402.4:c.563G>A
  • NP_000393.4:p.Cys188Tyr
  • NC_000023.11:g.154535180C>T
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Clinvar Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1722728

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