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: PA2830344088

Gene: EYA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 534388

ClinVar RCV Id: RCV000641932 RCV000991976 RCV002388083

ClinVar Variation Id: 1442621

ClinVar RCV Id: RCV001969897 RCV002388906

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742103.1:p.Met478Ile	CA365715318 NM_172105.3:c.1434G>A CA365715320 NM_172105.3:c.1434G>C CA365715322 NM_172105.3:c.1434G>T