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: PA2499240470

Gene: ATXN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1217546

ClinVar RCV Id: RCV001588219

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158248.1:p.Gly93delinsAlaAlaAlaAlaAlaAlaAla	CA2499222785 NM_001164776.2:c.278delinsCAGCAGCAGCAGCAGCAGC CA2626174745 NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAA CA2839517165 NM_001164776.2:c.278delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC CA2839517166 NM_001164776.2:c.278delinsCAGCAGCAGCAGCAGCAGCAGCAGC CA2840047092 NM_001164776.2:c.278delinsCAGCAGCAGCAGCAGCAGCAGCAGCAGC