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 allow 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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
233180
ClinVar RCV Id:
RCV000222377
RCV000465704
RCV000708874
RCV001800572
RCV001789766
RCV003462514
RCV004541356
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000170.1:p.Cys783Ser |
CA068851
NM_000179.3:c.2347T>A
CA346753511
NM_000179.3:c.2348G>C
|