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:
1450661
ClinVar RCV Id:
RCV002004907
ClinVar Variation Id:
2680441
ClinVar RCV Id:
RCV003460378
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001304114.1:p.Ser43Arg |
CA396465328
NM_001317185.2:c.127A>C
CA396465339
NM_001317185.2:c.129C>A
CA396465341
NM_001317185.2:c.129C>G
|