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; Clinical Genome (ClinGen) Resource.
Pawliczek P, et al.
Hum Mutat. 2018 Nov;39(11):1690-1701. doi: 10.1002/humu.23637.
Hum Mutat. 2018.
PMID: 30311374
Free PMC article.
The Registry is accessible both via a web interface and programmatically via well-documented Hypertext Transfer Protocol (HTTP) Representational State Transfer Application Programming Interface (REST-APIs). ...
The Registry is accessible both via a web interface and programmatically via well-documented Hypertext Transfer Protocol …