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Generated Narrative: Observation NTHL1-snv-molc
status: Final
category: Laboratory, Genetics
code: Molecular Consequence
subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))
effective: 2023-02-01
performer: Practitioner Test Dolin
derivedFrom: Observation Genetic variant assessment
component
code: coding HGVS
value: NM_002528.7:c.728G>A
component
code: Feature Consequence
value: nonsense codon
component
code: Amino acid change (pHGVS)
value: NP_002519.2:p.Trp243Ter