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: PA1139762773

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 837118

ClinVar RCV Id: RCV001038387

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Trp1074Arg	CA344862522 NM_206933.4:c.3220T>C CA344862523 NM_206933.4:c.3220T>A