INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
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_000001.11:g.68431089G>A , CM000663.2:g.68431089G>A | GRCh38 |
| NC_000001.10:g.68896772G>A , CM000663.1:g.68896772G>A | GRCh37 |
| NC_000001.9:g.68669360G>A | NCBI36 |
| NG_008472.1:g.23871C>T | |
| NG_008472.2:g.23871C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1426C>T MANE Select | NP_000320.1:p.Pro476Ser |
| ENST00000262340.6:c.1426C>T MANE Select | ENSP00000262340.5:p.Pro476Ser |
| NM_000329.2:c.1426C>T | NP_000320.1:p.Pro476Ser |
| ENST00000262340.5:c.1426C>T | ENSP00000262340.5:p.Pro476Ser |
| XM_017002027.1:c.1150C>T | XP_016857516.1:p.Pro384Ser |