×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA101749
Gene: NPHP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Ala1221Val
CA2621683
NM_153240.5:c.3662C>T