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:
433354
ClinVar RCV Id:
RCV000499150
ClinVar Variation Id:
2126656
ClinVar RCV Id:
RCV003051770
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001338729.1:p.Ser1289Arg |
CA7925255
NM_001351800.1:c.3867C>A
CA394884106
NM_001351800.1:c.3867C>G
CA394884322
NM_001351800.1:c.3865A>C
|