Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.

Canonical Allele Identifier: PA658830739

Gene: NPHP3 HGNC NCBI

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_694972.3:p.Leu1096Pro	CA2621786 NM_153240.5:c.3287T>C