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Allele

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Used in Clinical Genomics. Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process.

In the HL7 model we use the class name IndividualAllele to emphasize that even if it is a non-variant gene, it is expected that the individual sequencing of the patient gene will have DNA variations such as non-coding SNPs or SNPs with unknown significance.

This glossary item is based on v3. The wording may have been extended by later edits to provide additional detail.

Entity DeterminerCode Null Association DetectedIssue when using multiple payloads