Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2499305644

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1063996

ClinVar RCV Id: RCV001373900 RCV003450029 RCV003450030

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Val1342Leu	CA1395851 NM_206933.4:c.4024G>C CA344866964 NM_206933.4:c.4024G>T