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. 2018 Oct 11;39(11):1690–1701. doi: 10.1002/humu.23637

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© 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Reference sequences currently supported by the Registry. The NM, NP, and NR represent known and XM, XP, and XR represent modeled reference sequences from RefSeq (O'Leary et al., 2016). NC represents sequence of chromosomes, whereas NW, NT, and NG represent various genomic scaffolds. LRG, LRGt, and LRGp are genomic, transcript, and protein sequences from Locus Reference Genomic Database (MacArthur et al., 2014). ENST and ENSP are transcript and amino acid sequences from ENSEMBL (Aken et al., 2016)