Allele Registry

Canonical Allele Identifier: PA2825665998

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000196832

RCV000730183

RCV001128695

RCV001128696

RCV001135698

RCV002282034

RCV002478707

RCV002517295

ClinVar Variation:

216416

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121651.1:p.Glu558Gln	CA336743 NM_001128179.3:c.1672G>C