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.
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Canonical Allele Identifier: PA1139726587

Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 848310

ClinVar RCV Id: RCV001052037

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_057430.1:p.His58Gln	CA393032045 NM_016346.4:c.174C>A CA393032046 NM_016346.4:c.174C>G