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: PA2826842095

Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2269175

ClinVar RCV Id: RCV002826160

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284504.1:p.His257Gln	CA343565682 NM_001297575.2:c.771C>G CA343565683 NM_001297575.2:c.771C>A