ClinGen Allele Registry links information about genetic variants

Pawliczek, P; Patel, RY; Ashmore, LR; Jackson, AR; Bizon, C; Nelson, T; Powell, B; Freimuth, RR; Strande, N; Shah, N; Paithankar, S; Wright, MW; Dwight, S; Zhen, J; Landrum, M; McGarvey, P; Babb, L; Plon, SE; Milosavljevic, A

Milosavljevic, A (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.

HUMAN MUTATION, 2018; 39 (11): 1690

Abstract

Effective exchange of information about genetic variants is currently hampered by the lack of readily available globally unique variant identifiers th......

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