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: PA2580568128

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1977429

ClinVar RCV Id: RCV002736623

ClinVar Variation Id: 2188527

ClinVar RCV Id: RCV002620295

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Glu3952Asp	CA1393608 NM_206933.4:c.11856G>C CA344828923 NM_206933.4:c.11856G>T