The Resource definitions provided in this Allele model v0.1(beta) are an extension of the FHIR Resource and all the associated capabilities that they include. It is strongly recommended that users of this information have a sound understanding of the FHIR Resource specification before using these Resources.
The HL7 FHIR Specification defines the base Resource concept in great detail here.
Allele
Resources that provide core Allele record keeping - focused on the registration and canonicalization to support Allele indexing.
| Name | Aliases | Description |
|---|---|---|
| CanonicalAllele | allele identity, measure set, normalized variant identity | One of a set of coexisting sequence variants. |
| ContextualAllele | contextual allele, allele, variant, sequence variant, snv, amino acid variant, dna change, aa change | A representation of one of the multiple variant sequences at a contiguous region in a particular ReferenceSequence. |
| Gene | A genomic region related to a collection of transcript ReferenceSequences, given a name by one or more naming agencies. | |
| Provenance | Provenance describes the context in which a resource was created. | |
| ReferenceSequence | reference sequence, refseq, sequence, accession | A versioned sequence of nucleotide bases or amino acids. |