ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764742_169764748dup , CM000665.2:g.169764742_169764748dup | GRCh38 |
| NC_000003.11:g.169482530_169482536dup , CM000665.1:g.169482530_169482536dup | GRCh37 |
| NC_000003.10:g.170965224_170965230dup | NCBI36 |
| NG_016363.1:g.5314_5320dup , LRG_347:g.5314_5320dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001566.1:n.314_320dup , LRG_347t1:n.314_320dup |