Allele Registry

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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2499256614

Gene: DYNC1H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037384

ClinVar RCV Id: RCV001340526

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001367.2:p.Met550Ile	CA391018860 NM_001376.5:c.1650G>A CA391018861 NM_001376.5:c.1650G>T CA391018863 NM_001376.5:c.1650G>C