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:
1009246
ClinVar RCV Id:
RCV001306705
ClinVar Variation Id:
1395602
ClinVar RCV Id:
RCV001887211
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_004949.1:p.Met343Ile |
CA338399763
NM_004958.4:c.1029G>T
CA338399764
NM_004958.4:c.1029G>C
CA338399766
NM_004958.4:c.1029G>A
|