Allele Naming

A discussion about the depth and breadth of methods used to represent alleles and the reasons behind the decisions to support the scope of allele names in the current model.

Use Cases:

Hemoglobin Alleles - Below are just a few examples of hemoglobin alleles (including the most common, Hb S), there are many more less common alleles that have all been historically named, typically after the geographic origin of the first patient

Hb S allele http://www.ncbi.nlm.nih.gov/clinvar/variation/15333/

Hb C allele http://www.ncbi.nlm.nih.gov/clinvar/variation/15126/

Hb Zurich allele http://www.ncbi.nlm.nih.gov/clinvar/variation/15400/

References: http://www.ncbi.nlm.nih.gov/books/NBK1377/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3579210/ http://globin.bx.psu.edu/