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:
468719
ClinVar RCV Id:
RCV000549116
RCV000569322
RCV000678741
RCV003235282
RCV003492094
RCV003237915
RCV003470760
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001291646.4:p.Ile453Val |
CA377485551
NM_001304717.5:c.1357A>G
CA891834756
NM_001304717.5:c.1357_1359delinsGTT
|