This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978315C= , CM000674.2:g.120978315C= | GRCh38 |
| NC_000012.11:g.121416118C= , CM000674.1:g.121416118C= | GRCh37 |
| NC_000012.10:g.119900501C= | NCBI36 |
| NG_011731.2:g.4570C= , LRG_522:g.4570C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005253931.2:c.-454C= | XP_005253988.1:n.-454C= | |
| XM_024449168.1:c.-454C= | XP_024304936.1:n.-454C= |