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:
1044281
ClinVar RCV Id:
RCV001348505
ClinVar Variation Id:
2924906
ClinVar RCV Id:
RCV003788608
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001447.2:p.Ser2040Arg |
CA415195782
NM_001456.4:c.6120T>G
CA415195784
NM_001456.4:c.6120T>A
CA415195794
NM_001456.4:c.6118A>C
|