A Locus Reference Genomic (LRG) record is manually curated and contains stable genomic, transcript and protein reference sequences for reporting clinically relevant sequence variants.

NCBI (RefSeq) and EMBL-EBI (Ensembl/GENCODE) are working together to rationalise differences in our gene sets. Our goals for 2018/2019 include faster convergence on key high value annotations to provide a common minimal set of transcripts per gene. The goal for this transcript subset is identity between RefSeq and Ensembl both in terms of transcript length and per each nucleotide base. We encourage the community to continue working with us to create LRGs, which will have input into this future goal.