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:
284039
ClinVar RCV Id:
RCV000359558
ClinVar Variation Id:
1512218
ClinVar RCV Id:
RCV002017038
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001447.2:p.Met229Ile |
CA10604670
NM_001456.4:c.687G>T
CA415248806
NM_001456.4:c.687G>C
CA415248807
NM_001456.4:c.687G>A
|