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: PA2573316701

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1484479

ClinVar RCV Id: RCV002005827

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Val4256Leu	CA344849251 NM_206933.4:c.12766G>T CA344849252 NM_206933.4:c.12766G>C CA2573131580 NM_206933.4:c.12765_12766delinsCT