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:
2957573
ClinVar RCV Id:
RCV003811236
ClinVar Variation Id:
3000402
ClinVar RCV Id:
RCV003857577
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000390.2:p.Ala308_Ala309del |
CA5517196
NM_000399.5:c.922_927del
CA2609319355
NM_000399.5:c.909_914del
CA2609319356
NM_000399.5:c.906_911del
|