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:
52692
ClinVar RCV Id:
RCV000045642
RCV000114008
RCV000162603
RCV000120366
RCV000679194
RCV001170977
RCV004528254
RCV001112820
ClinVar Variation Id:
1169136
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000050.3:p.Lys2950Asn |
CA025850
NM_000059.4:c.8850G>T
CA387756275
NM_000059.4:c.8850G>C
|