SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
312904
ClinVar RCV Id:
RCV000289515
RCV000311891
RCV000351443
RCV000348122
RCV000402174
RCV003995840
RCV003320164
ClinVar Variation Id:
665805
ClinVar RCV Id:
RCV000824170
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000248.2:p.Ala990Thr |
CA035008
NM_000257.4:c.2968G>A
CA915946996
NM_000257.4:c.2967_2968delinsCA
|