Allele Registry

Canonical Allele Identifier: PA645468975

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000290000

RCV000325159

RCV000381986

RCV000732923

RCV001094596

RCV002487460

ClinVar Variation:

330735

HGVS (amino-acid)	Matching Registered Transcripts
NP_000263.2:p.Asn287Ser	CA1827267 NM_000272.5:c.860A>G