SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
998537
ClinVar RCV Id:
RCV001294408
ClinVar Variation Id:
1022558
ClinVar RCV Id:
RCV001322486
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000369.4:p.Asp8Glu |
CA379966544
NM_000378.6:c.24C>G
CA379966545
NM_000378.6:c.24C>A
|