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

Canonical Allele Identifier: PA2826511111

Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2412886

ClinVar RCV Id: RCV003109901

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257329.1:p.Lys317Asn	CA384636537 NM_001270400.1:c.951G>T CA384636540 NM_001270400.1:c.951G>C